DNA Today: A Genetics Podcast
Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast "DNA Today" has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more. ***Best 2020 and 2021 Science and Medicine Podcast Award Winner*** Learn more (and stream all 180+ episodes) at DNApodcast.com. You can contact the show at info@DNApodcast.com.
Fri, May 05, 2023
#235 Genetic Counseling History: ABGC Formation
If you are one of the listeners that tune into DNA Today every week, then you definitely know by now we have launched our Patreon. This is where you can not only get bonus content from DNA Today, you can get early access to episodes before the public. You also get to influence the content of the show, this includes episode topics and guests plus pitching questions I ask during interviews, and of course I will give you a shoutout when I ask your question. Oh and if you sign up by May 25th you get a bonus physical gift! For these benefits and more you can visit our Patreon, link is in the show notes and on our website DNAToday.com . We are continuing our peek into the past! Last episode we explored the history of the genetic counseling field with Michelle Fox and Debra Collins who shared about the first annual National Society of Genetic Counselors (NSGC) conferences . In this episode we are learning about the formation of the American Board of Genetic Counseling (aka ABGC) with Ann Walker and Ed Kloza. Ann Platt Walker, MA, LCGC has held many leadership positions including the Founding President and Director of the American Board of Genetic Counseling (ABGC), President of the National Society of Genetic Counselors (NSGC) in 1982, and has been on the Board of Directors for the American Board of Medical Genetics (ABMG), American Society of Human Genetics (ASHG), and the American Council for Genetic Counseling (ACGC). During Ann’s career she held roles at the University of California, Irvine Medical Center including as the program director for the Master’s of Science in Genetic Counseling Program for over two decades. She has authored over 20 peer reviewed publications, 10 book chapters, and countless abstracts and presentations. Ann has been awarded many times through her impressive career including the Natalie Weissberger Paul National Achievement and Leadership Awards from NSGC. Ed Kloza, MS, LCGC was the first genetic counselor in Maine. He helped establish clinical genetics in Southern Maine and pioneered prenatal serum screening at the Foundation for Blood Research in Scarborough, and was a member of the team from Women & Infants Hospital of Rhode Island which published the first international clinical validation study of cell-free DNA screening. He was key in the development of the genetic counseling profession including as a past president o
Fri, April 28, 2023
#234 Genetic Counseling History: 1st NSGC Conference
Congratulations to everyone who matched with a genetic counseling program last week! Special shoutout to our Communications Lead, Corinne Merlino, for matching with the University of Pennsylvania! Check out DNA Today Episode #101, Genetic Counseling Match Day , to prepare you to start grad school. We also provide advice for applicants that didn’t match in this cycle and offer inspiration to apply next round. In the spirit of recent matches, upcoming graduation, and DNA Day we thought it was time for another giveaway! This time we are giving away GC Genius' top two study materials: their study guide and flashcards featuring the top 100 genetic conditions to know . Enter on Instagram , Twitter , and LinkedIn before May 2nd! You can even enter on all three to increase your chances of winning. Fun Fact: The flashcards were co-created by Ashlyn Enokian, MS, CGC , who designed our DNA Today logo! She is also a genetic counselor featured on DNA Today Episodes 101 , 111 , 135 , and 212 . Can’t wait to see if you won? Use the code “DNATODAY” for a discount in <a href="https://r20.rs6.net/tn.jsp?f=001jS4ylnGMTViUgR-MPqmlqxYEvNYlG3OmsgxpL8cmTlqK1t9L-fda_w2y9In9igPapWqyCZ5BsUpNXNhuXpC5tYcYjd0UXut-mtYoIuiSjXyhHkrHP83fu5gfi1JmxxSWA3UnuXOROjpTDWD0KQll4tuukpGOvXqB6O3_4i32R93-D9A_yS_HJJcqUTUiGUj4PLaN-FAbWRuaY9KpaFUWogtTBxQemgqghQGiPHPg
Fri, April 21, 2023
#233 At-Home Non-Invasive Prenatal Screening with Juno Diagnostics
We are officially launching our Patreon next week on DNA Day, April 25th! To celebrate the 70th anniversary of the discovery of the structure of DNA and 20th anniversary of the completion of the human genome. By becoming a Patreon supporter you can receive benefits like joining our exclusive genetics book/movie club, mentorship sessions with me, even being on an episode of DNA Today! If you sign up as a Patreon supporter in the next month (by May 25th) we will throw in an extra physical gift, a piece of DNA Today merch. We launch on DNA Day (April 25th) so you can celebrate our genetics holiday by becoming one of our first patrons then ! As a prenatal genetic counselor, our host, Kira Dineen, is very intrigued to learn all about the new advances in non-invasive prenatal screening or NIPS. To see what’s new in at-home NIPS we are joined by experts from Juno Diagnostics (JunoDx), Katie Sagaser and Allison Rodgers! Katie Sagaser is the Director of Genetic Counseling at Juno Diagnostics. Katie’s team provides telehealth, prenatal genetic counseling services for patients undergoing Juno’s Hazel™ Non-Invasive Prenatal Screen – the first at-home, capillary-based NIPS for fetal aneuploidy. Prior to joining JunoDx, Katie was an assistant professor of Gynecology & Obstetrics in the Division of Maternal Fetal Medicine at the Johns Hopkins University School of Medicine. Katie’s professional interests center on equitable access to genetic testing and access to comprehensive reproductive health care throughout the lifespan. Most recently, she was the lead author on NSGC’s Practice Guidelines for Expanded (Equitable) Carrier Screening. A member of both the Society for Maternal Fetal Medicine Reproductive Health Advisory Group and NSGC's Public Policy Committee, Katie is also actively engaged in public policy work surrounding reproductive health and genetics. At Juno, Katie is passionate about using social and digital media to scale access to high-quality information on genetics and reproductive medicine. Dr. Allison Rodgers is a double board-certified OB-GYN and fertility doctor. She is currently the Director of Education at Fertility Centers of Illinois, a US Fertility Practice; additionally, she serves on the Clinical Advisory Board for Juno Diagnostics. Dr. Rodgers' personal experiences with secondary infertilit
Fri, April 14, 2023
#232 Entrepreneurship in Genetics with Matt Tschirgi
We are thrilled to be launching our Patreon very soon. It might be on a genetics holiday, I’ll let you figure that one out. In the meantime we would appreciate your insight on what you want from the Patreon. It’s your last chance to fill out our survey so that we will offer the benefits you want. You can access the 60 second survey here . Maybe you really want DNA Today merch or would love to have one on one mentorship with me. Maybe you have your own idea! Whatever your thoughts are, get them in by April 21st, 2023! Thanks for helping to develop our Patreon. On this episode, genetic counselor and entrepreneur, Matt Tschirgi, shares insights he has learned from running his own company and a survey he sent out to fellow entrepreneurs in the field. My guest today is a fellow genetic counselor entrepreneur, Matt Tschirgi ! Matt (he/him) performs contract work through his company, Genetix Consulting, LLC , in addition to being employed at a commercial lab. He has more than 15 years of combined experience in clinical and industry genetic counseling. Matt’s professional interests include prenatal genetics; academic and industry partnerships; and professional issues such as continuing education, multi-state licensure, and incorporating genetic counseling assistants in both clinical and industry settings. He earned his BS degree from Washington State University, and his MS in genetic counseling from University of Texas Health Science Center at Houston. Last year, Matt put a call out on Twitter and LinkedIn to fellow genetic counselors who are entrepreneurs to share their experiences for a student lecture he was putting together. This call generated a lot of interest and tons of responses, many of which we’ll be discussing in this episode! On this episode we discuss: The origin of LLC Genetix Consulting and the services they offer Genetic counseling skills that are transferable to being an entrepreneur Charging as an entrepreneur in genetics (fee ranges and payment models) <p class=""
Fri, April 07, 2023
#231 ChatGPT and AI In Genetics with Daniel Uribe
Have you heard? We are launching a Patreon! For those that are not familiar with Patreon, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. We have an exciting list of ideas on what we will offer you listeners, but we want you to make the final decisions on which benefits we end up offering you. So get your votes in through our survey. It only takes 60 seconds to fill out. Thank you SO much!! In this episode, we explore the intersection of artificial intelligence (AI) and genetics, focusing on the potential impact of AI policies and regulations on the field. Why do our show notes look different this week? We decided to stay on brand for this episode and use AI (shoutout Podium ) to write this content. We discuss the rise of AI chatbots like ChatGPT and BioGPT and their potential to transform healthcare and the genomics industry by assisting humans in interpreting vast amounts of genetic data. We delve into the importance of using AI-powered tools like ChatGPT to enhance our understanding of genomic data while maintaining privacy, and we discuss The Family Vault, which helps parents maintain ownership and control of their babies' genomic data. We also explore the challenges of implementing AI solutions in the clinical genomics industry, focusing on the importance of data provenance, quality, and privacy. Join us as we examine the future of data management in a hybrid world of centralized and decentralized databases, and learn about the exciting developments in the world of genetics. Daniel Uribe is the father of a rare disease child. He is an expert in cybersecurity, data laws, non-fungible tokens (NFTs) and genomics. Daniel is the inventor of BioNFTs to tokenize revocable digital rights over human biosamples and derived biodata based on data privacy laws to enable ethical AI training in genomics and healthcare. Top 10 Keypoints: AI chatbots like ChatGPT and BioGPT are transforming healthcare and genomics by assisting humans in interpreting vast amounts of genetic data. AI policies and regulations, such as the AI Bill of Rights, are being proposed to ensure responsible and ethical AI systems in healthcare and genomics. Data used to train AI must be accurate, properly presented, a
Fri, March 31, 2023
#230 Cancer Pharmacogenetics with Dr. Jamie Fettig
As you may have heard, we are launching a Patreon! For those that don’t know what Patreon is, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. We have a survey that will be open for a limited time so get your input in now so we can provide the benefits you want. Maybe that’s a one-on-one Zoom with me for mentorship or a genetics book/movie club or an appearance on the podcast! Let us know so we can make sure to offer it. Thanks for all your support for the podcast over the years. My guest today is Dr. Jamie Fettig, the Founder and CEO of TruGene Diagnostics. We are chatting about a breakthrough in eliminating variants of unknown significance - especially in relation to companion diagnostic tests and pharmacogenetics in oncology. Dr. Jamie Fettig is the Founder and CEO of TruGene Diagnostics, which is eliminating variants of unknown significance - especially in relation to companion diagnostic tests and pharmacogenetics in oncology. He graduated from Palmer University. Dr. Fettig previously worked in private practice and then transitioned into manufacturing and selling medical equipment. He also worked as a coach and trainer to fellow doctors. On This Episode We Discuss: Defining variants of unknown significance (VUS), pharmacogenetics and companion diagnostics What TruGene Diagnostics does The GiggaAssay How knowing if a breast cancer is HER2+ can help inform medications that people should be prescribed VUS in HER2 Tyrosine Kinase Region What people should do if they get HER2+ cancer or their doctor wants to do a biopsy thinking it might be HER2+ How cancer survival rates are impacted by utilizing precision medicine approaches with drugs How TruGene Diagnostics’ test differs from other PGx tests or Precision Meds How pharmacogenomics can increase the efficacy of clinical trials Check out Dr. Fettig’s papers: <a href="https://www.nature.com/article
Fri, March 24, 2023
#229 Pharmacogenomics with Avni Santani
We have an exciting announcement, we are launching a Patreon! For those that are not familiar with Patreon, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. In order to provide what YOU want, please take 60 seconds to fill out our survey . By filling out the survey not only are you influencing what benefits we will offer, but you will be the first to know when we will launch! Can’t thank you all enough for your listenership over the years, it’s such a privilege to be able to launch a Patreon to engage with you all more. This week we’re chatting about an emerging area of genetics, pharmacogenomics! Pharmacogenomics (PGx), one of the core elements of personalized medicine, is a field of research that studies how a person’s genes affect how they respond to medications. Its long-term goal is to help doctors select the drugs and doses best suited for each person. Joining us for this conversation is Avni Santani PhD, FACMG, Chief Medical Officer of Veritas Genetics , a LetsGetChecked company , which delivers tailored at-home healthcare solutions to 300+ organizations. Dr. Santani holds a Master’s degree in Medical Molecular Genetics from the University of Aberdeen and a PhD in Genetics from Texas A&M University. She holds specialty board certifications in Clinical Molecular Genetics and Clinical Cytogenetics from The Children’s Hospital of Philadelphia (CHOP). On This Episode We Discuss: Pharmacogenomics and other similar terms The state of genetic testing today and how it has changed in the last ten years Why it is helpful to have pharmacogenomic testing information when figuring out the best drugs to prescribe
Fri, March 17, 2023
#228 Trisomy 13 and Trisomy 18 with Divya Ramachandra
Update: One of our recurrent guests genetic counselor and fellow podcaster Laura Hercher had a couple important thoughts after listening to our episode we want to share. Laura has been a guest on Episodes 157 & 191 where she has shared her insight on abortion bans including Texas SB 8 and the overturn of Roe v. Wade. “I understand the reasons for moving our language away from terms like ‘lethal’ or ‘incompatible with life’, but we are also now faced with multiple states where only a lethal anomaly or condition is considered grounds for a legal abortion (insurance coverage for the abortion may hinge on this as well). And in fact, the language is so strict and the consequences so concerning that many institutions are basically turning down virtually all exceptions. It's a giant mess. So, not saying that it isn't important to tell the truth -- of course! But that term ‘lethality’ may need to remain in the conversation even when survival isn't out of the question.” Thanks Laura for writing in and adding to our conversation and considerations with the complexities surrounding reproduction. Our guest today is Divya Ramachandra, who is a genetic counselor and program coordinator in Chicago, practicing primarily in prenatal, pediatric, and inpatient genetics. In this episode, she provides us with a comprehensive overview of trisomy 13 (T13) and trisomy 18 (T18) and genetic counseling for these patient populations. Divya presented at the National Society of Genetic Counselors’ Annual Conference this past fall titled “From Lethal to Life-Limiting: Paradigm Shift in Caring for Patients with Trisomy 13 or 18” which we covered in our NSGC 2022 recap episode (#212 ). She published her thesis in the Journal of Genetic Counseling on transitional challenges novice genetic counselors face after graduation. She has a strong interest in bioethics and serves on the Pediatrics Ethics Committee as well as the Genetics Ethics Service Line at her institution. On This Episode We Discuss: Symptoms of T13/T18 Signs on ultrasound that a pregnancy may have T13/T18 Advice for healthc
Fri, March 10, 2023
#227 Limb-Girdle Muscular Dystrophies with Louise Rodino-Klapac and Livija Medne
In this episode, we are exploring limb-girdle muscular dystrophy (LGMD). Joining us for this conversation are two experts, Dr. Louise Rodino-Klapac, and genetic counselor Livija Medne. Dr. Louise Rodino-Klapac is the Executive Vice President, Head of R&D and Chief Scientific Officer at Sarepta Therapeutics who has 15 years of experience researching and studying LGMD. She is renowned for her work in molecular genetics and gene therapy. Her pioneering research is the foundation for five of our investigational limb-girdle muscular dystrophy (LGMD) programs. Hear from Dr. Rodino-Klapac about LGMD, the importance of knowing your subtype and the basics of gene therapy! Livija Medne is a Senior Genetic Counselor and Systems Director of Genetic Counseling at the Children's Hospital of Philadelphia. She has 15+ years of experience in pediatric neuromuscular diagnoses, including LGMD. She co-chairs and is one of the course directors of the Curriculum Committee at the University of Pennsylvania Genetic Counseling Program. In addition, Livija is an advocate for the professional development of junior genetic counselors, having co-founded the first Genetic Counselor Mentorship committee at CHOP. On This Episode We Discuss: Limb-girdle muscular dystrophy (LGMD) Which muscles are typically are affected first Symptoms that individuals with LGMD experience and when symptoms usually start The prevalence of LGMD compared to Duchenne Muscular Dystrophy How people are diagnosed with LGMD Why genetic testing is important to determine specific subtypes of LGMD Gene therapy programs for the most common subtypes The goal of the gene therapy When FDA-approval for LGMD gene therapy can be expected How patients can gain access to the gene therapy program and how health care providers can refer patients Busting myths about LGMD If you’d like to take a deeper dive after listening
Fri, March 03, 2023
#226 NICU Whole Genome Sequencing with Hong Li and Madhuri Hegde
Can rapid whole genome sequencing (WGS) be utilized in the NICU setting? We explore in this podcast episode! Joining us for this episode is Dr. Hong Li , a clinical geneticist at Emory University. Our other expert is a recurring guest, world-renowned geneticist Dr. Madhuri Hegde . She serves as the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics , a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer. If you want to hear her on other episodes of DNA Today tune into Episode 177 where we nerded out about the power of whole genome sequencing (which is a great precursor to this conversation) and Episode 202 about Duchenne Muscular Dystrophy. In addition to her role at PerkinElmer, Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine. Dr. Hong Li is a clinical and biochemical geneticist at Emory University School of Medicine who is passionate about diagnosing and treating children and families with genetic and metabolic diseases. She also oversees the Emory Metabolic Clinic, serves as Co-Chair of the Georgia Newborn Screening Advisory Committee (NBSAC), where she is extensively involved in Georgia’s NBS development, implementation, and clinical follow-up for children with metabolic disorders, is the Vice-Chief of the genetics section at Children’s Healthcare of Atlanta and geneticist of the multidisciplinary differences of sex development (DSD) clinic at CHOA and the site PI of the DSD translational research network (DSD-TRN). She also serves as the medical director of the Emory CTCF-related disorder (CRD) center. Dr. Li also holds multiple educational roles,
Fri, February 24, 2023
#225 Fetal Antigen Noninvasive Prenatal Testing (NIPT) with BillionToOne
Last episode we learned about non-invasive prenatal testing (NIPT) for recessive conditions through BillionToOne’s UNITY Screen . Jen Hoskovec , Senior Director of Medical Affairs at BillionToOne , is back for this episode where we are exploring NIPT for fetal antigen. Jen is BillionToOne’s Senior Director of Medical Affairs. Jennifer Hoskovec , MS, CGC, joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University. On This Episode We Discuss: Antigens Which antigens are screened for in UNITY Alloimmunization and who is at risk Why learning fetal antigens is useful during a pregnancy Prevalence of and risks associated with HDFN Hemolytic Disease of the Fetus and Newborn Sensitivity and specificity of UNITY Screen’s NIPT for fetal antigen The minimum gestational week blood for this test can be collected How providers can order both the UNITY for recessive conditions and fetal antigen The average turnaround time for these tests Learn more about UNITY Screen’s novel fetal antigen NIPT
Fri, February 17, 2023
#224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne
In this episode we are learning about UNITY Screen non-invasive prenatal testing (NIPT) for recessive conditions. Joining our host Kira Dineen are two experts from BillionToOne , the CEO Oguzhan Atay and the Senior Director of Medical Affairs, Jen Hoskovec . Stay tuned for our part two about their new fetal antigen NIPT! Oguzhan Atay , PhD, BillionToOne co-founder, has led the company since its inception and raised more than $200M in funding including from venture capital funds and investors who previously invested in tech companies such as SpaceX, Box, Spotify, Palantir, Braintree, and biotech companies such as Counsyl, WebMD, and Omada Health! Oguzhan received his PhD from Stanford University, where his work was published on the Cover of Cell Systems. He graduated summa cum laude and Phi Beta Kappa from Princeton University with a bachelor’s in molecular biology and minors in physics, computer science, and applied mathematics. Jennifer Hoskovec , MS, CGC, joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University. On this episode we discuss: Noninvasive prenatal testing (NIPT) What is UNITY Screen and why the name UNITY? Recessive conditions included in UNITY Screen Information included in a UNITY NIPT report Test specificity and sensitivity differences between ethnicities How typical carrier screening flows work differently with UNITY W
Fri, February 10, 2023
#223 PhenoTips: Rare Disease Diagnosis Workflow
Happy Rare Disease Month! With over 10,000 rare diseases , reaching a diagnosis is a long and arduous process for the 300 million people affected by a rare disease worldwide. Advancements in technology, bioinformatics, and improved collaboration hold the promise to end or reduce this diagnostic odyssey; however, valuable diagnostic data still remains siloed and fragmented within healthcare systems. To illuminate the ways in which interoperability can be harnessed to drive diagnosis, DNA Today host Kira Dineen and PhenoTips’ Dr. Orion Buske and Charles Keenan share their insights. DNA Today ’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series . This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. This episode is the 21st installment of the PhenoTips’ Speaker Series, “Building Integrated Workflows for Rare Disease Diagnosis”. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last two years. Dr. Orion Buske holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking, leading the technical working group of the Matchmaker Exchange as well as the redevelopment of RareConnect.org. Throughout his career he has also led the technical developments of both PhenomeCentral and PatientKind. In addition to his work building interoperable workflows for genomic medicine as Chief Executive Officer of PhenoTips, Dr. Buske remains an active member of the Global Alliance for Genomics and Health (GA4GH) where he co-leads the Pedigree Standards stream of the Clinical & Phenotypic Data Capture working group. PhenoTips’ Interoperability Specialist Charles Keenan is dedicated to building health technology products that easily share information among systems and providers, helping clinicians realize unprecedented health outcomes in our digital world. While working in genomics and ophthalmology, Charles was inspired to pursue a Master's in Health Informatics from the University of Toronto after experiencing first-hand the frustrations caused by healthcare technology for both patients and providers. Charles holds a BSc in Life Sciences and hopes to realize the future of genomics through leveraging new technology that builds communication
Fri, February 03, 2023
#222 Wilson’s Disease with Naseem Amin
We are kicking off Rare Disease Month by talking about Wilson’s disease , a rare, inherited disorder that causes copper to accumulate in the liver, brain, and other vital organs. It is inherited in an autosomal recessive pattern and left untreated, Wilson’s disease can be fatal. Joining us for this episode is Naseem Amin, the CEO of Orphalan , which develops and commercializes treatments for orphan/rare diseases. In this episode we are exploring Wilson’s disease and the FDA-approved treatment, Cuvrior. Naseem Amin (he/him) joined Orphalan in 2017 bringing thirty years of international industry experience in Research and Development, Corporate and Business Development, Venture Capital and Marketing. Naseem previously served as Executive Chairman at Arix Bioscience Plc, listed on the LSE, Venture Partner at Advent Life Sciences, Chief Scientific Officer at Smith and Nephew, where he oversaw corporate R&D, divisional manufacturing, QA/QC and product development functions. Prior to Smith and Nephew, Naseem led the business development functions at both Biogen and Genzyme Therapeutics. For both companies, he initiated and executed a number of transformative acquisitions and transactions. Naseem has also led the clinical development of five currently marketed therapeutic products. He started his career at Baxter Healthcare where he had executive roles in marketing, product development and clinical research. In addition to his role at Orphalan, Naseem currently serves as a board member and advisor to several not for profit organizations, and a publicly listed biotechnology company listed on the NASDAQ. Naseem is a qualified medical doctor, from the University College Medical School, London and has an MBA from Kellogg Graduate School of Management at Northwestern University. On This Episode We Discuss: Differences in metabolism in individuals with Wilson’s disease (WD) How an accumulation of copper affects the body and body systems that are most affected How and when WD is diagnosed Signs that someone may have WD Pathogenic variants (mutations) that have been identified in the ATP7B gene The number of people affected by WD Current/standard treatment recommendations for people with WD and how Cu
Fri, January 27, 2023
#221 Genetic Counseling in South Africa with Samantha Bayley and Tina-Marié Wessels
In this episode we are chatting about the genetic counseling field in South Africa! Joining us for this discussion are two guests from the University of Cape Town (UTC), current student, Samantha Bayley, and UCT-professor, Tina-Marié Wessels. Special thanks to our social media intern, Kajal Patel, for recommending Samantha and Tina for this episode! Samantha Bayley is currently a second-year student in the MMedSc Genetic Counselling Program at the University of Cape Town. Originally from Johannesburg she moved to the Western Cape for her tertiary education. Samantha completed a BSc in Human Life Sciences with Psychology (2016-2018), BSc Honours in Human Genetics (2019) and MSc in Human Genetics (2020-2021), all at Stellenbosch University. Her honours and masters research focused on a rare condition called Mabry Syndrome, including identifying a novel deleterious variant in the gene PGAP3 and determining this variant to be a likely founder effect in the Xhosa population for Mabry Syndrome. This year Samantha will do a minor dissertation on 'Investigating the Opinions on Telephonic Advanced Maternal Age Genetic Counselling'. She created the @samthegc Instagram page to share her experience as a Genetic Counselling Student and raise awareness for the profession in Africa. Dr. Tina-Marié Wessels is an associate professor in the genetic counseling program at the University of Cape Town, where she has worked since 2014! Prior to teaching at UTC, Tina worked as a genetic counselor at the National Health Laboratory Service and the University of the Witwatersrand, where she received her MSc(Med) and PhD in genetic counseling.She conducted her PhD in association with the Health Communications Project and examined the communication aspects of the genetic counselling process in an antenatal multicultural context. Tina joined the Division of Human Genetics at UCT IN 2014 as senior lecturer in Genetic Counselling. Together with Prof Jacquie Greenberg, she runs the Masters programme in Genetic Counselling where she is involved in undergrad and postgraduate teaching. In addition to her academic role, she is involved in clinical service and counsels patients from Groote Schuur and Red Cross Children’s Hospital. On This Episode We Discuss: Genetic counseling in South Africa Factors that limit expansion of the genetic coun
Fri, January 20, 2023
#220 Microfluidics with Franz Pruefer
This week we’re discussing all things microfluidics! Joining us for this discussion is Franz Pruefer. He is the Co-Founder of Maxwerk Bio which has a pipeline of biotech diagnostic and therapeutic devices. Franz is also the Co-Founder of CERTESS Therapeutics an early stage Cell Therapy Company in stealth mode based in Cambridge, Massachusetts. Under the pharmaceutical division, Maxwerk supplies injectable and solid dose manufacturing machinery, and pharmaceutical engineering and construction. Their customers include domestic and multinational pharmaceutical (Global Fortune 500) companies with production facilities in Mexico, Central America, the Caribbean, and more! Under the biotech division, Maxwerk’s team of multidisciplinary scientists are working to develop novel and innovative biotechnology products for diagnostic and therapeutic applications. Their team is comprised of talented individuals from biotechnology, synthetic biology, engineering, chemistry, and artificial intelligence. Under Maxwerk Healthcare, they supply medical devices and consumables for hospitals in Mexico, Central America, and the Caribbean On This Episode We Discuss: Microfluidics overview The evolution of microfluidic technology over the last 4 decades Applications of microfluidics within healthcare How microfluidic based testing can perform single cell studies Droplet-based microfluidics The cost difference between microfluidic based tests and standard tests How microfluidics offers a unique advantage to patients who live in more remote areas of the world Applications outside of the healthcare space (space medicine, security at airports, stadiums, etc.) Upcoming projects at Maxwerk You can stay up to date with Maxwerk’s projects and Franz by following him on Twitter . Stay tuned for the next new episode of DNA Today on January 27th, 2023! New episodes are released every Friday. In the meantime, you can binge over 219 other episodes on Apple Podcasts , <a href="https://open.spotify.com/show/2TbRJMsOOeUTphJT
Fri, January 13, 2023
#219 It Happened To Me Podcast: Genetic Counselors for Rare Diseases
A new year means a new podcast! We are thrilled to announce that our host, Kira Dineen, is a co-producer of a new rare disease and medical challenges podcast called, It Happened To Me . In celebration of the launch we wanted to share an upcoming episode of the podcast where the hosts Cathy Gildenhorn and Beth Glassman interviewed Kira Dineen. There will also be another episode on the show where they flip roles and Kira interviews Cathy and Beth about their patient advocacy and stories. Hope you enjoy this episode and be sure to subscribe to It Happened To Me in your podcast player. We would really appreciate a rating and review as well on Apple and Spotify. This is KEY for a successful launch! Kira Dineen, MS, LCGC, CG(ASCP)CM has over a decade of podcast experience fueled by a passion for science communication. She has hosted and produced 7 podcasts. Her main show, "DNA Today", is in the top 1% of podcasts globally. Listeners Discover New Advances in the world of genetics through Kira’s interviews about genetic technology, disorders, and news. The show won the Best and Science and Medicine Podcast Awards for the last three years, among other awards. “DNA Today” has produced over 215 episodes. Kira is also the host of the PhenoTips Speaker Series, a live webinar interviewing international genetic leaders. Kira produces the Patient Empowerment Program, which is a nano-rare disease podcast. She was selected and served as a member of the National Society of Genetic Counselors’ Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York and is a licensed certified genetic counselor currently practicing in Stamford, CT. On This Episode We Answer: When should people consider genetic counseling? Do you need a referral? Does insurance pay for genetic testing and counseling? Is genetic testing done before or after the visit? How many visits are typically involved for genetic counseling? What reproductive options do couples have? How do genetic counsel
Fri, January 06, 2023
#218 LEND Program with Betsy Humphreys, Karen Volle and Karina Mancini
Happy New Year! Joining us for the first episode of 2023 is Betsy Humphreys, Karen Volle and Karina Mancini, who will share their experience with the New Hampshire-Maine Leadership Education Neurodevelopmental Disabilities (LEND) and the New England Regional Genetics Network programs, and how they relate to genetics advocacy. Elizabeth Humphreys is the Director of the Leadership Education in Neurodevelopmental Disabilities (LEND) Program at the University of New Hampshire, a graduate leadership training and workforce development program aimed at improving systems of care for children with special health care needs. Since 2010 she has secured nearly 11 million dollars to implement the program in collaboration with the University of Maine UCEDD and Dartmouth Hitchcock Medical Center. She is a Research Assistant Professor of Early Childhood Special Education in the UNH Department of Education. Dr. Humphreys has worked extensively throughout early intervention settings since 1985 in collaboration with public education, Head Start, state partners and childcare programs with a focus on developmental monitoring and screening in infants and toddlers. Dr. Humphreys research integrates two research to practice areas: 1) evaluating the effectiveness and accessibility of evidence-based interventions and services for young children with neurodevelopmental disabilities and their families, and 2) examining leadership frameworks that establish and support cross-systems collaborations for health and early education professionals. She has also co-authored book chapters, as well as numerous peer-reviewed manuscripts and presentations. Karen Volle has been a Project Director with the Institute on Disability at the University of New Hampshire since February 2008 . Directly before this position Karen worked as a research assistant with the Crimes Against Children Center at UNH. Karen has a strong background in human services, having directed a Juvenile Intake program for eighteen years prior to working at UNH. This experience spanned child welfare, the juvenile court system and social services, and helped Karen learn to look across systems as well as to manage day to day activities. She now uses those skills at the IOD. She received her BA in psychology from Coe College Karina is a LEND trainee, student, genetics professional, and prospective genetic counseling student based in New Hampshire. She completed her undergraduate degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at UConn. After graduation, she worked for two years as a cytogenetic technologist for a diagnostic hospital lab. Karina has a passio
Fri, December 30, 2022
#217 SynGAP1 with Mike Graglia and Elli Brimble
Patient advocate, Mike Graglia, and genetic counselor, Elli Brimble, join DNA Today for a conversation about SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder caused by a variant on the SYNGAP1 gene. Mike Graglia has always worked on complicated problems – he can’t help himself. So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. Mike has been trying to make the world a better place for a while – after the Peace Corps & grad school (MBA/MA) he joined the World Bank, then BCG Healthcare and eventually the Gates Foundation. His professional background is an ideal preparation for leading SRF to a cure for SYNGAP1. Elli Brimble has worked as a genetic counselor since 2016 and is currently the Research Director for Rare Disease at Ciitizen (now part of Invitae), a company that empowers people with access to their health data. She earned her B.Sc. in Genetics at Western University, a M.Sc. in Molecular Genetics at the University of Toronto, and pursued her genetic counseling degree at Boston University School of Medicine. On This Episode We Discuss: Mike’s experience as a patient advocate and his son Tony’s diagnostic odyssey Elli’s role as a genetic counselor in diagnosing SYNGAP How SYNGAP1 affects the body on a biochemical level (SYNGAP1 haploinsufficiency) Sleep issues associated with SYNGAP and other symptoms The prevalence of SYNGAP and why it’s advantageous to identify 1,000 or more people with the condition Labs and organizations that have been helpful in supporting the SYNGAP community Connecting with fellow parents/caregivers who have kids with SYNGAP The status of SYNGAP1 research and potential treatments Mike’s podcast, SYNGAP10 You can learn more about Mike’s family and the SynGAP Research Fund in this <a href="https://www.youtube.com/watch?v=lLO2hsAi4-
Fri, December 23, 2022
#216 African American Ancestry with Nicka Smith
Nicka Smith (she/her), a pro genealogist with over 20 years of experience, joins DNA Today for our second to last episode of the year! She is the host of BlackProGen LIVE , a web series focused on genealogy and family history with a special focus on people of color. Nicka Smith is a professional photographer, speaker, host, consultant, and documentarian with more than 20 years of experience as a genealogist. She has extensive experience in African ancestored genealogy, reverse genealogy, and is expert in genealogical research in the Northeastern Louisiana area, and researching enslaved communities. Nicka has diverse and varied experience in media with a background in audio, video, and written communications. She’s appeared on TODAY Show, CNN, MSNBC, on the series Who Do You Think You Are and has been interviewed by Oakland Tribune, The Undefeated, National Geographic, and TIME. She is a citizen of the Cherokee Nation of Oklahoma, a member of two lineage societies (Sons and Daughters of the Middle Passage (SDUSMP), National Society of Daughters of the American Revolution (DAR)), and a past board member of the California Genealogical Society (CGS) and the African American Genealogical Society of Northern California (AAGSNC). Nicka served as the chair of the Outreach and Education Committee for AAGSNC, and is the former project manager for the Alameda County, CA Youth Ancestral Project where more than 325 youth were taught the value of family history. On This Episode We Discuss: Why people are drawn towards ancestry How ancestry can be valuable information Why the ancestry percent changes over time in direct-to-consumer DNA testing Companies with diverse databases How genetic testing companies can be more inclusive with their databases Why it’s helpful to look at the Y chromosome and mitochondrial DNA when exploring maternal and paternal specific lineage How haplogroups can help with ancestry research Tracking down formerly enslaved ancestors and which records to use Nicka’s personal experience tracking her family history Kira mentioned a few videos and blog posts from Nicka Smith incl
Fri, December 16, 2022
#215 Preventative Health via Whole Exome Sequencing
Our guest today is Dahlia Attia-King , Founder and CEO of Panacea . Panacea’s mission is to improve access and utilization of genetic testing by offering affordable whole exome sequencing, physician oversight, and genetic counseling all in a 10 minute workflow. This week we are chatting about utilizing whole exome sequencing for preventive health. Dahlia’s education in biology and experience working with genetic laboratories exposed her to the reality that many middlemen stood in the way of patients receiving valuable clinical genetic tests. She embarked on a multi-year journey to discover the reasons for the barriers and was inspired to create a solution. Dahlia and her co-founders founded Panacea with a mission to increase access to clinical genetic testing. With an additional 6 years in Healthcare IT, Dahlia learned about the technology solutions integral in pushing genetic testing and healthcare into a much needed era of modernization. On This Episode We Discuss: The difference between whole exome and whole genome sequencing Why WES vs panels? Examples of conditions that we can learn risk level for through WES The future of insurance coverage of WES for preventative health purposes Importance of pre-test education of tests How the cost of WES has changed over time Founding Panacea Depth of coverage of the sequencing through Panacea Post-test genetic counseling with Panacea To learn more about Panacea and WES, follow them on Instagram or head to their website . Stay tuned for the next new episode of DNA Today on December 23rd, 2022 where we’ll be discussing African American Ancestry with Nicka Sewell-Smith! New episodes are released every Fridays. In the meantime, you can binge over 210 other episodes on Apple Podcasts , <a href="https://open.spotify.com/show/2TbRJMsOOeUTphJTqIYc6E?s
Fri, December 09, 2022
#214 2022 Genetics Wrapped with Eric Green
Are you seeking a position as a Genetic Assistant? People in these vital roles aid with clinical and research patient communication, data entry, genetic testing coordination, and administrative tasks. Therefore training is key! We recommend The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine. This online program provides knowledge and skills to learners considering Genetic Assistant positions or those recently hired into these roles who need job training. This program consists of two 10-week instructor-led courses. All you need is a basic understanding of science, particularly biology. At the successful completion of the program, learners will receive a certificate of completion from the Johns Hopkins School of Medicine and the McKusick-Nathans Department of Genetic Medicine. Applications are open for the spring cohort starting January 23rd, 2023. Applications for partial tuition waivers to help offset the cost of the program are due December 23rd. Don’t wait! Check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine now. (SPONSORED) As a listener of DNA Today you have heard me interview countless guests about genetic testing. I’m sure you have thought to yourself, “I
Fri, December 02, 2022
#213 Congenital Adrenal Hyperplasia and Gender with Sage Sargent
It’s December which means Spotify Wrapped was announced! If you are one of the 2,616 people that had us on your Spotify Wrapped Podcast section, tag us in your story or post for a shoutout on the show! Thanks to Maya, Em, Carly, Allison and LittleDipperPomskies, for already sharing. For those that don’t follow us on social media @DNATodayPodcast, here are this year’s highlights…So far this year we have produced 1,747 minutes of new content, that’s nearly 30 straight hours. And it’s more than 98% of other science podcasts. We are humbled by how much the podcast has grown this year, our followers on Spotify alone grew 85%. And 97% of you discovered us this year. Welcome to all our new listeners from this year! Our reach around the world has expanded now, you are listening from 75 countries! On Spotify we have a rating of 4.9 stars, and we will only keep it that way if you all give us those stars. HUGE thank you to our team for making all this happen… Corinne, Amanda, Kajal, Sanya, and Ashlyn. Shoutout to our 40+ sponsors who support the show, checkout the full list here . And most of all THANK YOU LISTENERS! You are why we put so much work into the show. We love including you on the show, so email us what you think the biggest genetics news story of 2022 has been, then you will be featured in our year wrap up episode with Dr. Eric Green. Email is info@DNAtoday.com Our guest today is Sage Sargent (She/Her), who is a patient advocate for congenital adrenal hyperplasia (CAH). Sage is a 27 year old non-binary person who was diagnosed with classic CAH before the age of 1. She has a bachelors in Gender studies with a minor in Ethnic studies from the University of Utah where she graduated in 2021. Through her education and her connection to the queer community Sage has been able to heal some of the disconnect she felt growing up, when she didn’t have the language to describe her experience. Now as an adult Sage hopes that her lived experience as an intersex person can help others who might feel as lost as she once did. On This Episode We Discuss: <p class="" style="white-sp
Sun, November 20, 2022
#212 NSGC Recap 2022
We are recapping and reflecting on the National Society of Genetic Counselors 41st Annual conference , which was just held in Nashville. Some attendees joined in virtually and others, like myself, joined in person. It was incredible to meet so many of you listeners. I am already looking forward to NSGC 2023 in Chicago in October. If I didn’t get a chance to say hi to you, or you couldn’t attend the conference, email me at info@DNAtoday.com . I’d love to connect and also add you to our email newsletter so you can stay updated on DNA Today . Oh and don’t forget to enter our giveaway from last episode for one of 5 copies of the Genome Defense. You can enter on our social media on Twitter , Instagram , LinkedIn , and Facebook all @DNATodayPodcast. Enjoy our thoughts on the conference and what we learned! I am honored to feature four outstanding genetic counselors (wish I had time to include even more). Check out their bios below including what we chatted about during their segment of the show. Monisha Sebastin , MS, CGC (She/Her) is a genetic counselor who specializes in pediatric genetics, cardiovascular genetics, and immuno-genetic conditions in New York City. She is this year’s recipient of the Heart of Genetic Counseling Award that recognizes one genetic counselor every year who goes above and beyond for their patients. Monisha was a presenter at “We’re Not In Kansas Anymore, Toto! International Genetic Counselors’ Experiences in the US” which we chat about in this episode. Monisha continues to serve as co-chair of the USIGC sub-committee of the International Special Interest Group (SIG) and as co-chair of the Pediatric and Clinical SIG at the National Society of Genetic Counselors (NSGC). Monisha is a member of the NYCKidSeq research team and is the lead genetic counselor on her team. She volunteered as the chair of the education committee at the New York State Genetics Task Force (NYSGTF) in 2020 and 2021. You can follow Monisha on Twitter and connect with her on LinkedIn .
Fri, November 18, 2022
#211 Jorge Contreras on The Genome Defense
Our guest in this episode is Jorge Contreras, author of The Genome Defense . In this riveting, behind-the-scenes courtroom drama, a brilliant legal team battles corporate greed and government overreach for the fundamental right to control our genes. We’re giving away 5 copies of The Genome Defense, so be sure to check out our social media accounts for the giveaway details. If you don’t win, you can get a copy here . When you buy a copy of the book, half of the proceeds are donated to FORCE , an organization that strives to improve the lives of individuals and families facing hereditary cancer. You can learn more about the book on Contreras’ website, genomedefense.org . Jorge Contreras (he/him) is the James T. Jensen Endowed Professor for Transactional Law and Director of the Program on Intellectual Property and Technology Law at the University of Utah S.J. Quinney College of Law, with a secondary appointment in the Department of Human Genetics. His research focuses on intellectual property, technical standards and science policy, and he is one of the co-founders of the Open COVID Pledge, a framework for contributing intellectual property to the COVID-19 response. He is the editor or author of twelve books and more than 150 scholarly articles and book chapters. During his career he has served on the NIH Council of Councils and the National Advisory Council for Human Genome Research, and as Co-Chair of the National Conference of Lawyers and Scientists. His most recent book, The Genome Defense: Inside the Epic Legal Battle to Determine Who Owns Your DNA (Algonquin, 2021) describes the litigation that ended gene patenting in America. He is a graduate of Harvard Law School (JD) and Rice University (BSEE, BA). Learn more about Jorge here . On This Episode We Discuss: Why the ACLU and other groups felt so strongly that gene patents should be banned Factors that lead to the ACLU choosing Myriad and specifically the BRCA related gene patents for the lawsuit The role that public perception played in the AMP vs. Myriad case The predicted impact of banning gene patents on the economy and
Fri, November 11, 2022
#210 Reproductive Medicine Family History with Tristan Hardy
After two years of virtual NSGC conferences, I can’t wait to see many of you in Nashville next week! Say “hi” if you see me! If you want to be featured in our NSGC recap episodes, let me know. I would love to capture your impression of the conference to feature on the episode. Maybe you will get DNA Today merch in exchange… I will be spending a lot of time in the exhibit hall, so look for me there. As some of you may know our host, Kira Dineen, is a prenatal genetic counselor! Today’s episode topic is something that she talks about every day, family history in reproductive medicine! Joining us for this discussion is Dr. Tristan Hardy who is a dual-trained obstetrician/gynecologist and genetic pathologist with a particular focus on reproductive genetics. Tristan Hardy is a Consultant Gynecologist at Repromed and the Medical Director of Genetics at The Monash IVF Group , both in Australia! Dr Hardy completed his medical degree at the University of New South Wales and undertook specialty training in Obstetrics and Gynecology at the Royal Hospital for Women, Sydney and the Women’s and Children’s Hospital, Adelaide. Alongside specialist training, he completed a Masters in Reproductive Medicine and a PhD focussing on new methods of Preimplantation Genetic Testing. Following completion of training in Obstetrics and Gynecology, he undertook a fellowship in genetic pathology at SA Pathology. He is Australia’s only dual-qualified Obstetrician/Gynecologist and Genetic Pathologist. Dr. Hardy’s special interest is in helping couples who are planning genetic testing of their embryos, due to genetic conditions identified in previous pregnancies or on carrier screening. He runs a joint clinic with Dr. Jan Liebelt (Clinical Geneticist) to provide comprehensive care of couples undergoing IVF with Preimplantation Genetic Testing. Dr Hardy is experienced in all aspects of fertility management and performs clinical procedures including oocyte retrievals, embryo transfers and IUIs. On This Episode We Discuss: When family history is relevant to reproductive health General trends for people to keep in mind (early onset conditions, birth defects/differences, stillbirths/infant deaths, genetic disorders) What family health history information patients should try to gather prior to meeting with a reproduc
Fri, November 04, 2022
#209 Aspects of Quality Genetic Testing with Blueprint Genetics
When our host, Kira Dineen, began her career as a genetic counselor she was mostly starting from scratch because the private practice she works at hadn’t had a genetic counselor in two years. So she met with a bunch of labs to ask them about their tests so she could decide who she would be ordering from. As a brand new genetic counselor, it was hard for Kira to figure out what the important aspects of genetic testing were, so she wanted to dive into what makes a quality genetic test in this episode. We’re joined by two experts from Blueprint Genetics , Dr. Kirsty Wells and Rachel Goldberg, MS, CGC for this episode! Dr. Wells is a Senior Geneticist and Team Lead at Blueprint Genetics where she specializes in interpretation of ophthalmology panels and whole exome sequencing data. She has a background in both research and diagnostics. Before joining Blueprint in 2018, she completed PhD and postdoctoral research fellowships, and undertook in-depth training in genetic diagnostics in the UK’s National Health Service. Rachel Goldberg is a Genetics Services Consultant at Blueprint Genetics. She previously worked as a pediatric, adult, and laboratory genetic counselor in both direct and non-direct patient care roles. She attended graduate school at Long Island University. On This Episode We Discuss: Defining a quality genetic test Top-notch sequencers Depth of sequencing AI programs, tools, and techniques for analyzing quality data Acceptable turnaround times for gene panels, exomes, and genomes How labs can achieve a patient-first mindset Things that healthcare providers can do to provide a quality experience How often patients that do not receive results of a causative pathogenic variant for their symptoms should check back with labs to see if any VUSs were reclassified Head over to blueprintgenetics.com and follow Blueprint on Twitter , <a href="https://www.facebook.com/blueprintgene
Fri, October 28, 2022
#208 The 100,000 Genomes Project with Dr. Julian Barwell
In 2012, the 100,000 Genomes Project was announced, the same year we started this podcast! Back in 2015 we did an episode about the 100,000 Genomes Project so we’re excited to revisit this massive project today with Dr. Julian Barwell , who is a clinical geneticist and has countless titles but today’s most relevant one is the operational clinical lead of the 100,000 Genome project. After finishing his Clinical Genetics training (2001-2007) at Guy's, St George's and the Royal Marsden from the University of London; Dr. Barwell started as a consultant in Clinical Genetics in Leicester. He runs specialist clinics in inherited cancer susceptibility; non-alcoholic fatty liver disease and susceptibility to hepatitis, cirrhosis and hepatocellular carcinoma; Von Hipped Linda syndrome and Neurofibromatosis type 2. He has over 60 publications and helped coin the internationally known phrase, the 'Angelina Jolie effect' on referrals to inherited breast cancer clinics. He also developed the first YouTube channel for Clinical Genetics that has been viewed in over 100 countries and developed the Supporting Families with Cancer projects in association with the Genetics Education Centre (GENIE) at the University of Leicester. He is the clinical lead for the delivery of Paediatrics, Obstetrics & Gynaecology, Non-Malignant Haematology and Clinical Genetics national portfolio research studies (CRN) in the East Midlands. He is the rare disease lead for the 100,000 Genome Project in Leicester and the public and patient involvement clinical lead for the East of England Genomics Medicine Centre with the aim of reducing inequality of access to Genomic Medicine. He is the designer of the genome project eligibility criteria wheels for Health Education England and is on the Genomics England committee for patient involvement and access to genomics for black and minority ethnic groups. He is a national clinical advisor to the National Hereditary Breast Cancer Helpline and helped develop the award winning Prostaid male health App and is clinical lead of the United Against Prostate Cancer project, establishing tumour BRCA testing. He is joint clinical lead of the Paediatric and Genetics Clinical Research Facility at the Leicester Royal infirmary and is establishing a fragile X syndrome research group and patient self-navigation App project with the Genomic Medicine Service Alliance. He is a senior author of the newly commissioned book, Clinical Genetics and Genomics at a Glance a
Fri, October 21, 2022
#207 N-Lorem: Dr. Sessions Cole on the Diagnostic Odyssey
As some of you may know, our host Kira Dineen also co-produces the “Patient Empowerment Program” by n-Lorem. The podcast launched earlier this year and focuses solely on the needs of people with nano-rare diseases. These are people who have a unique pathogenic variant (aka mutation) that affects 30 or less people in the world, sometimes just one person. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today . He was on Episode 141 where I picked his brain about nano-rare diseases. He is a scientist, physician, entrepreneur and the father of antisense technology. Dr. Crooke is responsible for more than 40 drugs in development including the famous Spinraza to treat people with spinal muscular atrophy. So this week we are sharing an episode of the podcast where Dr. Crooke interviews Dr. Sessions Cole about the diagnosed odyssey for people with rare diseases. Dr. Sessions Cole shares his career being a neonatal pulmonologist and his involvement in the undiagnosed diseases network (UDN). Dr. Cole estimates that it can take up to 12 years to get a diagnosis for a patient with a rare genetic condition and that there could be as many as 30 million of these patients in the U.S. who are undiagnosed. The UDN is working to elevate the awareness of the diagnostic odyssey these patients undertake and diagnose up to one third of patients who are referred to the UDN. Dr. Cole is part of n-Lorem’s access to treat committee (ATTC), the committee that evaluates and recommends patients to n-Lorem. In this episode, Dr. Cole discusses the robust processes involved in the evaluation of each application to n-Lorem and the hope and value that n-Lorem is providing to nano-rare patients today. To hear other episodes of the n-Lorem “Patient Empowerment Program'', subscribe on Spotify, Apple Podcast, their website , YouTube , or wherever you stream your podcasts. The host is Dr. Stan Crooke, videographer is Jon Magnuson of Mightyone Productions, producers are Jon Magnuson and Kira Dineen. Stay updated with n-Lorem on Twitter , Instagram , Facebook , Linked In , <a href="https:/
Fri, October 14, 2022
#206 Phenotypically-Driven Clinical Results with Dr. Lora Bean
Dr. Lora Bean gives an overview of phenotypically-driven clinical results in this episode of DNA Today ! Dr. Lora Bean is a clinical molecular geneticist who currently serves as the Senior Director of Quality Assurance at PerkinElmer Genomics . Dr. Bean has expertise in traditional clinical molecular testing as well as newer techniques such as next generation exome and genome sequencing. She has served as a molecular editor for GeneReviews and as a member of the American College of Medical Genetics Laboratory QA / QC Committee, an item writer for the ABMGG, and is currently a laboratory inspector and a Biochemical and Molecular Genetics Committee member for the College of American Pathologists. Previously, she served as an Associate Professor in the Department of Human Genetics and Senior Director and Regulatory Director of the EGL Genetics (formerly Emory Genetics Laboratory) Molecular Diagnostic Laboratory. Dr. Bean earned her PhD in the Department of Human Genetics at Case Western Reserve University and completed a postdoctoral fellowship at Emory University. She is board-certified by the American Board of Medical Genetics and Genomics and a fellow of the American College of Medical Genetics. On This Episode We Discuss: Differences between gene panels, exome, and genome sequencing Adapting workflows from exome to genome utilizing existing frameworks Advantages of different types of testing Limiting the floodgates of variants that inevitably come with whole genome sequencing Helpful information for providers to include with specimens to guide the laboratory when the data are analyzed The role of phenotypic data specifically in classification of sequence variants Deep intronic variants Kira was off by one, but Dr. Bean was right, ACMG has 73 genes on the list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). If you found the topics that we discussed on this episode interesting, check out this <a href="https://vimeo.com/7
Fri, October 07, 2022
#205 Multiple Sulfatase Deficiency with the United MSD Foundation
Y’all YOU made it happen. DNA Today won the Best 2022 Science & Medicine Podcast Award ! We are honored to defend our title for the THIRD year in a row. Thank you listeners! An astonishing 5.7 MILLION people voted in the Podcast Awards this year, so it truly took each and every one of you for DNA Today to win. This was perfect timing to close out September which marked a decade of DNA Today and our 200th episode. Huge shoutout to our sponsors who make this show possible! I was able to mention a few during the acceptance speech, but I wish I had time to highlight all 40+. Listeners make you check out our Sponsors page for all the details. Anyway, I want to thank my team for so much hard work. Thank you to Corinne Merlino, Amanda Andreoli, Kajal Patel, Sanya Tinaikar, Ash Enokian, and Megha Matur for all your hard work. And it all comes back to you listeners; it’s the People’s Choice Podcast Award, so thanks for choosing us. It really means the world to us. This week we were joined by Amber Olsen and Faith McGown of the United MSD Foundation to discuss Multiple Sulfatase Deficiency (MSD), an ultra rare, fatal genetic condition, and what it’s like to run a rare disease nonprofit! Amber Olsen is the mother of Willow, a child diagnosed with MSD. Following WIllow’s diagnosis, Amber formed the United MSD Foundation, traveling the world to find a treatment to help the children with this devastating disease. She will not stop until enough money is raised to bring research into the clinic for the children with MSD. Amber and her husband Tom have 3 wonderful daughters, Kylee 15, Jenna 11, and Willow 4 years old. Faith McGowan is a campaign consultant at the United MSD Foundation. For more than 30 years, Faith has successfully supported the mission and financial goals of nonprofit and corporate organizations. Her work has included development, sales and marketing, public and media relations, event development and management, and securing individual, foundation and corporate support for nonprofit organizations. Faith has a BA in Journalism from the University of Minnesota and began her professional career in journalism. She is an avid runner and certified as a yoga instructor and health coach. Faith and her daughter live in Memphis, Tennessee. On This Episode We Discuss: </p
Fri, September 30, 2022
#204 Mosaicism with FUTR Podcast
Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That’s right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram and Twitter, and my LinkedIn to enter for FREE! For 10 extra entries you can leave a rating/review on Spotify or Apple then you email that to info@DNApodcast.com and I will personally give you an extra 10 entries. Shoutout to GC Prep for sponsoring. Use code “DNATODAY” for a discount on their mentor services. (SPONSORED) Have you ever wondered why Calico cats look the way they do? Is there a human equivalent? What does our genetic future look like? This week we’re featuring an episode of the FUTR Podcast where our host, Kira Dineen, was invited as a guest to chat about mosaicism. We’ve touched on mosaicism on DNA Today in the past, but we really dive into it in this episode! FUTR.tv focuses on startups, innovation, culture and the business of emerging tech with weekly podcasts featuring Chris Brandt and Sandesh Patel talking with industry leaders and deep thinkers. On This Episode We Discuss: Mosaicism The genetics of Calico cats Sex disorders X-chromosome activation Cytogenetics CRISPR The recent overturn of Roe v. Wade Keep up with FUTRtech on Twitter , Facebook , LinkedIn , and YouTube , and listen to their entire library of episodes on a wide range of tech topics here . <p class="" style="white-space:
Fri, September 23, 2022
#203 CTNNB1 Syndrome with Effie Parks of Once Upon a Gene
Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That’s right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram , Facebook , and Twitter , and my LinkedIn to enter for FREE! For 10 extra entries you can leave a rating/review on Spotify or Apple then you email that to info@DNApodcast.com and I will personally give you an extra 10 entries. Shoutout to GC Prep for sponsoring. Use code “DNATODAY” for a discount on their mentor services. (SPONSORED) Our guest this week is fellow genetics podcaster, Effie Parks, to discuss CTNNB1 Syndrome. When she learned that her son, Ford, had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Now, she is the host of her own podcast, Once Upon A Gene where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world. Our host, Kira Dineen was recently featured on Episode #143 of Once Upon a Gene where genetic counselors shared impactful rare disease stories! On This Episode We Discuss: <p class="" style="white-sp
Fri, September 16, 2022
#202 Duchenne Muscular Dystrophy with Ann Martin and Madhuri Hegde
Learn about a genetic disorder called duchenne muscular dystrophy! We explore the genetics of DMD and treatments available with two experts in the field. We’re joined by genetic counselor, Ann Martin , who serves as the VP of Community Research and Genetic Services at Parent Project Muscular Dystrophy . Our other guest is world-renowned geneticist Dr. Madhuri Hegde from PerkinElmer Genomics . She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer. You may remember her from Episode 177 of DNA Today , which was a really fun episode where we geeked out on the power of whole genome sequencing! Sick of Zoom conferences? The Connecticut Genetic Counselors Association’s first conference is in person! Jackson Laboratory is hosting us on Friday, October 14th in Farmington, CT. Our host, Kira Dineen, will be the moderator for Roe v. Wade Panel where we will be discussing the implications for practicing in a safe harbor state. Other presentation topics include polygenic risk scores, inclusive practice for LGBTQIA+ patients, and billing/credentials. We also built in networking time so we can all chat and get to know each other. Register here ! On This Episode We Discuss: DMD average age of onset, symptoms, and symptom progression DMD prevalence and inheritance Why it’s important for people to be offered carrier screening before they are trying to conceive Reproductive options for people who are carriers of DMD What symptoms carriers of DMD are at risk for Getting the right testing for DMD Current treatment approaches for DMD (EMFLAZA) Ongoing clinical trials PPMD’s guides for caregivers of newly diagnosed people PerkinElmer Genomics’ free testing program, <a href="htt
Fri, September 09, 2022
#201 Sickle Cell Disease with Lifting the Veil
It’s Sickle Cell Awareness month, so we are sharing this episode of Lifting the Veil podcast where Beveraly Mills and Elaine Buck interview our host, Kira Dineen, about the condition! On Lifting the Veil, Beverly and Elaine cover, and uncover, the truth about African-American history. Misconceptions, lies, skewed facts, and untruths about the African-American narrative get straightened out here, once and for all. On This Episode We Discuss: Health disparities specifically in black community Birth mortality rates of black people Funding/support for sickle cell disease research compared to other disease like cystic fibrosis Henrietta Lacks’s story and its impact on science, medicine, and her family Treatments for sickle cell including bone marrow transplant and CRISPR clinical trials You can listen to the episode here , and check out their other episodes on New Pod City . If you’re interested, you can read the article mentioned throughout the interview, “Comparison of US Federal and Foundation Funding of Research for Sickle Cell Disease and Cystic Fibrosis and Factors Associated With Research Productivity,” here ! Keep up with Beverly Mills and Elaine Buck on LinkedIn, and follow the Stoutsburg Sourland African American Museum on Twitter , Beverly and Elaine are the co-founders! Stay tuned for the next new episode of DNA Today on September 16th, 2022 where we’ll be joined by Ann Martin and Madhuri Hegde to discuss Duchenne Muscular Dystrophy. New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on <a href="https://itunes.apple.com/us/podcast/dna-today-a-genetics-pod
Fri, September 02, 2022
#200 Reflecting on a Decade of DNA Today
This is a milestone episode for two reasons. As you may have noticed, it’s our 200th episode . Technically we had about 20 episodes prior to numbering them, but these are mini lessons and not really full episodes. These started when we were broadcasting live from WHUS 91.7 FM. The other milestone is that September 1st marks 10 years of DNA Today . We released our first episode in 2012. Back then our host and producer, Kira Dineen, was starting her senior year of high school, fast forward a decade and now she has her masters in genetics and has been practicing as a genetic counselor for 2 years! As a high schooler she dreamed of reaching people around the world, little did she think she would be producing DNA Today ten years later with two Podcast Awards, ranking in top 1% of podcasts globally with 40+ sponsors. This journey has been incredible. We have had countless guests on the podcast that have brought immense insight into the field of genetics, the life of living with a genetic condition or caring for someone who does, groundbreaking advancements in genetic technology, discussions exploring the ethics surrounding this technology, and so many more important conversations. During this episode we are looking back at the last 10 years and 200 episodes. We are featuring your voices. Voices of people that make this show possible. Listeners. Team members. Guests. And more. So you will hear these voice memos sharing people’s favorite episodes, followed by clips from the episodes. We want to thank you so much. DNA Today would not be successful without you . It’s your downloads, engagement, and support that keep this show going. We are so passionate about educating the world about genetics, it’s you that keeps us going. I am humbled by your support and honored to be in this role. Shoutout to the following listeners, guests, and DNA Today team members for submitting voices memos featured in this celebratory episode: Corinne Merlino, Sophia Saladino, Ashlyn Enokian, Katie Lee, Amanda Andreoli, Daniel DeFabio, Faith McCarthy, Laura Markham, Paloma Boeck, Taila Stanford, Sanya Tinaikar, Kajal Patel, and Mahfuz Taofeeq. <p class="" data-rte-preserve-empty="true" style="white-space:pre-wrap;
Fri, August 26, 2022
#199 Prostate Cancer Genetics with Heather Cheng
We have two special announcements! Next episode we will be celebrating a decade of DNA Today! That’s right, we released our first episode on September 1st, 2012. It also coincides with our 200th episode. We want to mark these milestones with you on the show. So send in your favorite episode. You can write it, or better yet, record a voice memo sharing your favorite episode and why you enjoy listening to the show. After all, our podcast would not be possible without you loyal listeners. That’s why we want to celebrate together! Send in your voice memo or written message about your fav episode of DNA Today to info@dnapodcast.com . Deadline is August 27th. Thank you to all you listeners for nominating us in the Podcast Awards, you did it! We have officially been nominated. It’s year number 6 being nominated and it might be our third time winning the Best Science and Medicine Podcast Award. BUT that’s only going to happen if you check your email inbox for an email from The Podcast Awards with the subject line, “Podcast Awards Final Slate Voting”'. If you got this email you are one of the few that were selected to be a voter. It’s imperative that you vote! There is a hyperlink to click to get to the voting page. You do have to quickly log back in. Once you do, select DNA Today in the “Science and Medicine category”, select your other fav podcasts and then Hit the “Save Nominations” button. It’s that easy. You have until September 10th to do this, but please do it now if you got the email so you don’t forget! In this episode we are educating you about prostate cancer as we are on the cusp of prostate cancer awareness month starting next week. Joining us for this discussion is Dr. Heather Cheng, Director of the Prostate Cancer Genetics Clinic at the Seattle Cancer Care Alliance , Assistant Professor in the Division of Medical Oncology at the University of Washington School of Medicine, and Associate Professor in the Clinical Research Division at the Fred Hutchinson Cancer Research Center. She focuses on improving the care of patients with prostate and bladder cancers. An expert in prostate cancer genetics, she is studying ways to use genetics to guide the care of prostate cancer patients and their family members who may also be at high risk for the disease. On This Episode We Discuss: <p
Fri, August 19, 2022
#198 CRISPR Ethics with Sam Sternberg
We have two special announcements! Very soon we will be celebrating a decade of DNA Today! That’s right, we released our first episode on September 1st, 2012. It also coincides with our 200th episode. We want to mark these milestones with you on the show. So send in your favorite episode. You can write it, or better yet, record a 30-60 second voice memo sharing your favorite episode and why you enjoy listening to the show. After all, our podcast would not be possible without you loyal listeners. That’s why we want to celebrate together! Send in your voice memo or written message about your fav episode of DNA Today to info@dnapodcast.com . Deadline is August 27th. Thank you to all you listeners for nominating us in the Podcast Awards, you did it! We have officially been nominated. It’s year number 6 being nominated and it might be our third time winning the Best Science and Medicine Podcast Award. BUT that’s only going to happen if you check your email inbox for an email from The Podcast Awards with the subject line, “Podcast Awards Final Slate Voting”'. If you got this email you are one of the few that were selected to be a voter. It’s imperative that you vote! There is a hyperlink to click to get to the voting page. You do have to quickly log back in. Once you do, select DNA Today in the “Science and Medicine category”, select your other fav podcasts and then Hit the “Save Nominations” button. It’s that easy. You have until September 10th to do this, but please do it now if you got the email so you don’t forget! Our guest this week is Dr. Sam Sternberg, who is a protein-RNA biochemist and CRISPR expert. He runs a research laboratory at Columbia University, where he is an assistant professor in the Department of Biochemistry and Molecular Biophysics. Sam's lab explores the biology of CRISPR-Cas systems and transposable elements, and develops these systems for genome engineering. In addition to publishing his research in leading journals and speaking internationally, Sam remains actively involved in public outreach and ongoing discussions on the ethical issues surrounding genome editing. Together with Nobel Prize winner Jennifer Doudna, he co-authored a popular science book about the discovery, development, and applications of CRISPR technology. Titled A Crack in Creation: Gene Editing and the Unthinkable Power to Control Evolution, which ch
Fri, August 12, 2022
#197 CRISPR Quality Control with Kiana Aran
We have two special announcements! Very soon we will be celebrating a decade of DNA Today! That’s right, we released our first episode on September 1st, 2012. It also coincides with our 200th episode. We want to mark these milestones with you on the show. So send in your favorite episode. You can write it, or better yet, record a voice memo sharing your favorite episode and why you enjoy listening to the show. After all, our podcast would not be possible without you loyal listeners. That’s why we want to celebrate together! Send in your voice memo or written message about your fav episode of DNA Today to info@dnapodcast.com . Deadline is August 27th. Thank you to all you listeners for nominating us in the Podcast Awards, you did it! We have officially been nominated. It’s year number 6 being nominated and it might be our third time winning the Best Science and Medicine Podcast Award. BUT that’s only gong to happen if you check your email inbox for an email from The Podcast Awards with the subject line, “Podcast Awards Final Slate Voting”'. If you got this email you are one of the few that were selected to be a voter. It’s imperative that you vote! There is a hyperlink to click to get to the voting page. You do have to quickly log back in. Once you do, select DNA Today in the “Science and Medicine category”, select your other fav podcasts and then Hit the “Save Nominations” button. It’s that easy. You have until September 10th to do this, but please do it now if you got the email so you don’t forget! Can’t thank you all enough! Special shoutout to the following listeners for sharing after they nominated us… Heather, Dan, Janelle, Steven, Doug, Lynn, Taila, Lorraine, Katherine, Barbara, Jerry, Catherine, Kim, Ashlyn, Pricilla, Jane, Rob, Hari, Vishnu, Leticia, Meli, Wright, Mahfuz, Anne, Laura, Molly, Hibat, Rachael, Carol, Hal, Romer, Joanne Joining us this week is Dr. Kiana Aran, Associate Professor of Medical Diagnostics and Therapeutics and head of the Aran Lab at Keck Graduate Institute (KGI) where she works to develop CRISPR Quality Control standards. In addition to her important w
Fri, August 05, 2022
#196 Mitochondrial disorders with Devin Shuman and Lissa Poincenot
This week we are joined by two mitochondrial experts who are very active in the rare disease community. We are focusing our conversation on a condition called Leber Hereditary Optic Neuropathy (LHON). Lissa Poincenot is a patient advocate with the United Mitochondrial Disease Foundation and she has a son that has been diagnosed with LHON. Devin Shuman (she/her) is a genetic counselor at Genetic Support Foundation who also has a nano-rare mitochondrial disorder called GUK1. Lissa received a Bachelor’s degree from Princeton University, and an MBA from UCLA. Her professional career was devoted to developing and leading marketing teams at various large companies. In 2008 Lissa’s oldest son, Jeremy, suddenly became legally blind at age 19 due to a rare mitochondrial disorder called Leber Hereditary Optic Neuropathy (LHON). Jeremy has become a World Blind Golf Champion and Professional Inspirational Speaker. Lissa is a passionate LHON Advocate, devoted to advancing the science, educating about the disorder, and developing a vibrant, collaborative LHON community. She resides in Carlsbad, California. Devin received her Bachelor’s degree in Psychology from Smith College in Northampton, Massachusetts in 2014 and her Master’s degree in Genetic Counseling from the University of California, Irvine in 2017. She currently resides in Bellevue, Washington. In addition to her role at Genetic Support Foundation, Devin currently serves on the Medical Advisory Board for the GRIN2B Foundation and volunteers as the Young Adult Coordinator for the United Mitochondrial Disease Foundation. Her prior genetic counseling roles have included working at a telehealth genetic counseling company, a high-risk maternal fetal medicine clinic, a neurodevelopmental clinic, and an autism family registry. Devin is passionate about rare disease advocacy, public speaking, and inclusive care for LGBT and disability communities. On a typical Friday night, you’ll find Devin running a virtual support group for teens with mitochondrial disease – often with her Flemish giant rabbit or African grey parrot making an appearance. On This Episode We Discuss: Function of the mitochondria General symptoms that
Fri, July 29, 2022
#195 The Genetic Testing Industry with Tod Klingler
Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! Our guest this week is Dr. Tod Klingler , who is the head of product research and development at Genomic Life . Over his 25-year career, Dr. Klingler has held leadership roles with organizations that have successfully developed and commercialized innovative products including Illumina, Roche, XDx (now CareDx) and Incyte. Dr. Klingler has also founded start-up companies such as Prospect Genomics and Station X. On this episode, he shares insights from his decades long career in the industry! Disclaimer: DNA Today is sponsored by some genetic companies. You can view the full list of DNA Today sponsors at DNApodcast.com/sponsors. Since we are both US based our conversation will focus on the industry in America. On This Episode We Discuss: Changes in genetic testing trends over the last few decades The benefits of companies shifting from specializing in specific types of genetic tests to expanding into multiple areas of genetics How laws, professional organization guidelines/recommendations and insurance changes affect genetic testing labs The role of genetic counseling companies in the future Types of genetic testing (ex: Liquid Biopsies, PRS, WGS) Advice for genomic companies on best practices to become successful Recommendations for resources for people to keep up with industry changes In this episode, Tod shared some recommendations for resources for people to keep up with all of these genetic testing industry change
Fri, July 22, 2022
#194 Genetic Counseling Application Advice with GC Prep: Part 2
Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! This week we’re continuing our Q and A discussion on genetic counseling program apps with Mikayla Stoecker, Founder & CEO of GC Prep, and Janelle Villiers, co-owner of GC Prep. Be sure to check out part 1 of our Q and A from last week, and if you want even more insight about genetic counseling grad apps and preparing for the first year check out episodes 87 , 97 , 101 , and 155 of DNA Today! Janelle Villiers (she/ella) is an Assistant Program Director as well as an alumna of the Sarah Lawrence College Genetic Counseling Program. She received her BAS from the University of Pennsylvania. Prior to coming to SLC, Janelle worked in the clinical setting as a clinical supervisor at Jacobi Medical Center. She later worked in the laboratory setting at the Mt. Sinai Genetics Testing Laboratory. She was a former site visitor volunteer for the Accreditation Council for Genetic Counseling (ACGC) and was also the former treasurer for the executive committee of the Association for Genetic Counseling Program Directors (AGCPD). In addition to teaching, Janelle’s oversees the admissions and recruitment efforts for the Sarah Lawrence Program. Janelle is also on the faculty of New York Medical College where she is involved in the Leadership Education in Neurodevelopmental and Related Disabilities (LEND) program. Mikayla Stoecker (she/her) graduated in 2014 with a Masters of Genetic Counseling from the Icahn School of Medicine. She received her undergraduate degree in Physiology and Developmental Biology, with a minor in Molecular Biology from Brigham Young University, where she developed a passion for genetics and for teaching. Mikayla’s primary specialties ar
Fri, July 15, 2022
#193 Genetic Counseling Application Advice with GC Prep: Part 1
Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! Y’all asked and we answered! Some of our most popular episodes are about the genetic counseling application process, so we are doing a QnA about it in this episode. If you want even more insight about genetic counseling grad apps and preparing for the first year check out episodes 87 , 97 , 101 , and 155 of DNA Today. Our guests for this episode are Mikayla Stoecker, Founder & CEO of GC Prep, and Janelle Villiers, co-owner of GC Prep. Janelle Villiers (she/ella) is an Assistant Program Director as well as an alumna of the Sarah Lawrence College Genetic Counseling Program. She received her BAS from the University of Pennsylvania. Prior to coming to SLC, Janelle worked in the clinical setting as a clinical supervisor at Jacobi Medical Center. She later worked in the laboratory setting at the Mt. Sinai Genetics Testing Laboratory. She was a former site visitor volunteer for the Accreditation Council for Genetic Counseling (ACGC) and was also the former treasurer for the executive committee of the Association for Genetic Counseling Program Directors (AGCPD). In addition to teaching, Janelle’s oversees the admissions and recruitment efforts for the Sarah Lawrence Program. Janelle is also on the faculty of New York Medical College where she is involved in the Leadership Education in Neurodevelopmental and Related Disabilities (LEND) program. Mikayla Stoecker (she/her) graduated in 2014 with a Masters of Genetic Counseling from the Icahn School of Medicine. She received her undergraduate degree in Physiology and Developmental Biology, with a minor in Molecular Biology from Brigham Young University, where she developed a passion for genetics
Fri, July 08, 2022
#192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer
Atticus Shaffer of The Middle on ABC discusses life with osteogenesis imperfecta and his acting career.
Tue, July 05, 2022
Nominate "DNA Today" For 2022 Podcast Award
PodcastAwards.com Select “DNA Today: A Genetics Podcast” in the Science & Medicine Category If you enjoy our episodes we would really appreciate you nominating us in the Podcast Awards. We are hoping to defend our title as the Best Science and Medicine Podcast! In order to do this, we need YOU listeners to get “DNA Today” nominated at PodcastAwards.com in the “Science in Medicine” category. The nominations are open now and close at the end of the month on July 31st. But don’t wait, do it now so you don’t forget. The show has been nominated five years, including winning the last two years. This is a people’s choice award which means it’s all about the listener's favorite podcasts. To win we are going to need every single listener to nominate “DNA Today” in the Science & Medicine Category. That’s because we are up against popular podcasts with huge production companies, so as a small independent podcast, we rely on each and every one of you to get nominated and hopefully win again! If you nominate us and share it on social media, tag us so we can repost it. Bonus: We will also give you a shoutout on the podcast/radio show . Thank you to all our listeners who have supported us for the last 10 years, that’s right. “DNA Today” is turning 10 this September. We also want to thank new listeners for inviting us into your earbuds, thanks for joining our nerdy community. So what better way to celebrate a decade of “DNA Today” than to defend our title as theBest Science and Medicine Podcast Award! We look forward to many more years of genetics podcasting ahead of us! Getting nominated in the Podcast Awards helps us grow and find new sponsors so we can continue bringing you more interviews with leaders in genetics.
Fri, July 01, 2022
#191 Overturning Roe v. Wade with Laura Hercher
Help us to defend our title as the Best Science and Medicine Podcast! Go to podcastawards.com and select “DNA Today” in the Science and Medicine category. Bonus if you tweet/post that you nominated DNA Today (and tag us), then we will share your post and give you a shoutout on the show as a thank you. You have the power to get DNA Today nominated again! On Friday, June 24th, 2022, the US Supreme Court released its decision in Dobbs v. Jackson Women’s Health Organizationvoting to overturn Roe v. Wade— the 1973 ruling that guaranteed federal constitutional protections of abortion rights. In this discussion we will be explaining the abortion laws and how this decision specifically affects genetic counseling with Laura Hercher . Laura is a seasoned genetic counselor and the host of The Beagle Has Landed podcast . She is also on the team at Sarah Lawrence College’s Genetic Counseling program coordinating student research, directing the ethics course and facilitating the weekly current events discussion. In the week leading up to this episode we asked our listeners to submit their questions on our social media channels, be sure to listen to see if your question was answered! On This Episode We Discuss: Trigger laws and when they go into effect The effect of this decision on pro-choice states (CT, NY, CA, etc) How this ruling disproportionately affects people who can’t afford to travel for abortions Genetic counseling in a post-Roe world and how this decision affects the field The legal ramifications for genetic counselors discussing patients’ options in abortion banned states How the overturning of Roe is going to impact pedigrees Receiving care (medication, D&C, D&E) in states that now have abortion bans How this affects pregnancies that are non-viable and people with conditions where a pregnancy is life-threatening <p class="" style="white-space:pre-wr
Fri, June 24, 2022
#190 PhenoTips: Gender Affirming Care in Genetic Counseling
Happy Pride month! This episode we are continuing our celebrations! Last episode (#189) we interviewed two experts from PhenoTips, Orion Buske and Erica Peacock about building inclusive pedigrees. This episode is a fantastic follow up about how to provide gender affirming care, specifically in the genetic counseling space. As a queer member of the LGBTQIA+ community, our host Kira Dineen is excited to share this episode. DNA Today ’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series . This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. This episode is the 20th installment of the PhenoTips’ Speaker Series, “Gender Affirming Care in Genetic Counseling”. The webinar is sponsored by PhenoTips. During these live events we interview leaders in the field of genetics and moderate questions live from the audience. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last two years. Gender Affirming Care in Genetic Counseling is a panel discussion and interactive Q & A with host and genetic counselor Kira Dineen, diversity and inclusion advocate and hereditary cancer genetic counselor at Genome Medical, Joanna Mercado, prenatal genetic counselor at Sema4, Marney Brillinger, and transgender patient advocate, Holden Bender-Bernstein. Cultural attitudes towards the transgender community have shifted in recent years, allowing trans individuals to become more visible and empowered than previously possible. As the trans population grows in response, so too do health disparities and incidents of transphobia experienced by this historically medically marginalized group. With no agreed-upon pedigree standards for trans individuals and limited cultural competency training, genetic counselors face significant challenges providing the necessary affirming care to transgender and gender non-conforming patients. On This Episode We Discuss: • Improving clinic experiences for transgender and gender non-conforming patients • Beyond standards: gender affirming family history collection <p cl
Fri, June 17, 2022
#189 Building Inclusive Pedigrees with Phenotips
To celebrate Pride month our next two episodes will be focused on the LGBTQIA+ community. In this episode we explore building inclusive pedigrees with Dr. Orion Buske and Erica Peacock of Phenotips . The PhenopTips name might seem familiar as our host, Kira Dineen, is also the host of the PhenoTips Speaker Series, which is a live webinar about genetic topics (including a live Q&A), then it’s released as a podcast. Watch previous Speaker Series here , or search “ PhenoTips Speaker Series ” where you get your podcasts to listen! As a queer member of the LGBTQIA+ community, our host Kira Dineen is so excited to talk about building inclusive software for genetic counseling in this episode, especially in the spirit of Pride month! Next week we are sharing the recording of yesterday’s June Installment of PhenoTips Speaker series, which pairs very nicely with this conversation as it’s about improving gender-affirming care in genetic counseling and features two fellow genetic counselors and patient advocate! Dr. Orion Buske is the CEO of Phenotips. He holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking. He co-leads the Global Alliance for Genomics and Health Pedigree standard working group. Erica Peacock is the genetics workflow consultant at PhenoTips. She holds an MSc in Genetic Counselling from the University of British Columbia, and she is certified by the American Board of Genetic Counseling. On This Episode We Discuss: Why it’s important to denote someone’s sex assigned at birth Incorporate same sex couples utilizing a donor or donors to concieve in pedigrees Best ways to indicate that someone is transgender on pedigrees Representing gender non-conforming or non-binary people on pedigrees <p clas
Fri, June 10, 2022
#188 Propionic and Methylmalonic Acidemia with HemoShear Therapeutics
Propionic and Methylmalonic Acidemia (PA and MMA), including an investigational therapy, are explored in this episode. Host Kira Dineen is joined by patient advocate Bryan Kelly, and HemoShear Therapeutics CMO, Dr. Pat Horn. Bryan Kelly is 36 years old and living with propionic acidemia. He is a great inspiration to patients and caregivers alike, finding ways to live a fulfilling life, despite the burdens of his disease. Bryan uses yoga and meditation techniques for pain relief and is active on social media, regularly reaching out to the PA community. Dr. Pat Horn is the Chief Medical Officer of HemoShear Therapeutics. His company is developing a potential new treatment for the two rare metabolic diseases we are talking about in this episode- propionic acidemia and methylmalonic acidemia. He practiced 20 years as a pediatrician and has spent the last two decades working with biotechnology companies developing new treatments for rare diseases. On This Episode We Discuss: How propionic and Methylmalonic Acidemia affect the body PA and MMA screening and diagnosis Prognosis, lifespan and quality of life for people with PA or MMA The goal of HemoShear’s investigation therapy (HST5040) that is currently in development Why studies like HERO are important to the PA and MA community Living with PA Mindfulness and coping with a diagnosis Why the FDA tends to fast track therapies that target orphan/rare diseases If you’re interested in learning more about HemoShear’s HST5040 therapy for PA and MMA, check out this Fact Sheet , and learn more about the HERO study at clinicaltrials.gov (NCT04732429) or mma-pahero.com . Hemoshear is also conducting the JUMP (Journey to Understand MMA and PA) Study A Natural History Study which you can lea
Fri, June 03, 2022
#187 Facioscapulohumeral Muscular Dystrophy with Perkin Elmer Genomics
This week we’re diving into Facioscapulohumeral Muscular Dystrophy (FSHD) and highlighting the utilization of whole genome mapping in the diagnosis of FSHD. Joining us to explore these topics are June Kinoshita, Director of Research and Patient Engagement at the FSHD Society , and Rojan Kavosh, a genetic counselor by training who is currently a Genomic Testing Consultant at PerkinElmer Genomics . June Kinoshita joined the FSHD Society in 2012 and served as its Executive Director until September of 2017. Previously, June co-founded and served as Executive Editor of the Alzheimer Research Forum , the pre-eminent Web community for researchers in neurodegenerative disorders. June has worked closely with a variety of foundations to develop initiatives for multiple sclerosis, schizophrenia, amyotrophic lateral sclerosis, Parkinson’s disease, and other disorders. She is also an entrepreneur, having co-founded N-of-One, Inc. , a pioneering individualized clinical decision support oncology company. June graduated from Harvard College where she studied physics, and began her career as a science journalist, working as a writer and editor for Scientific American, Science, The New York Times Magazine, and many other national publications. Rojan Kavosh MS, CGC, is a licensed certified genetic counselor and Genomic Testing Consultant at PerkinElmer Genomics. Prior to joining PerkinElmer Genomics, she worked as a perinatal genetic counselor in the Fetal Center at Stanford Children’s Hospital. Rojan graduated from UCLA with a degree in Molecular, Cell and Developmental Biology, and earned her Master’s in Genetic Counseling from UC Irvine. On This Episode We Discuss: Facioscapulohumeral Muscular Dystrophy (FSHD) Types of FSHD Causes of FSHD Digenic inheritance patterns Genome optical mapping vs. whole genome sequencing The genetic etiology of FSHD type 1 vs 2 Benefits of ordering FSHD testing through PerkinElmer Genomics <p class="" style="white-space:pr
Fri, May 27, 2022
#186 n-Lorem: Nano-Rare Diseases with Luke Rosen and Wendy Chung
We are thrilled to share a brand new podcast that Kira Dineen co-produces, the n-Lorem “Patient Empowerment Program”. The podcast just launched so we wanted to share the pilot episode with you! This podcast focuses solely, exclusively, on the needs of nano-rare patients. These are patients that have a unique pathogenic variant (mutation) that affects only them or less than 30 people worldwide. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today . He was on Episode 141 where we picked his brain about nano-rare patients. He is a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for more than 40 drugs in development including the famous Spinraza to treat people with spinal muscular atrophy. In this pilot episode, the host, Dr. Stan Crooke, is joined by actor and patient advocate Luke Rosen and pediatric geneticist Dr. Wendy Chung. This episode takes you on a journey to diagnosis and what it is like to live with a nano-rare disease. Luke Rosen is the board chair, KIF1A.org, vice president of patient engagement and government affairs at Ovid Therapeutics and father to Susannah. You may have seen him in Law & Order, Orange Is The New Black, Rescue Me, and Numb3rs. To learn more about KIF1A and the organization Luke and his wife, Sally, founded visit kif1a.org . You can follow Luke on Twitter @lukebrosen . Wendy Chung, M.D., Ph.D. is the Kennedy family professor of pediatrics in medicine, chief of the division of clinical genetics, department of pediatrics at Columbia University Medical Center, medical director of Columbia Genetic Counseling Graduate program and director of the clinical cancer genetics program at Columbia. Check out all the great work from Dr. Wendy Chung and her lab at Columbia by visiting wchunglab.com . The host of the show is Dr. Stanley Crooke, a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for driving the development of antisense or ASO technology, an RNA-targeted technology responsible for the commercialization
Fri, May 20, 2022
#185 Nutrigenomics with Yael Joffe
Joining us this week is Dr. Yael Joffe, Founder and Chief Scientific Officer of 3X4 Genetics , a genetic testing partner for providers that allows them to bring genetic testing into their practice so that they can provide patients with more personalized and DNA-based actionable insights that will help them live better, longer, and healthier lives. Dr. Joffe is also a fellow podcaster! She is the host of The Power of Genetics , a podcast that features inspiring conversations and practical advice from the world’s top expert practitioners at the forefront of the future of health. Dr. Joffe is an expert in the field of nutrigenmoics, starting her career as a dietician before going on to earn her PhD in nutrigenomics from the University of Cape Town, exploring the genetics of obesity. She has authored 3 books, It’s not just your Genes, the SNP Journal, and Genes To Plate and has been published in peer-reviewed journals. As a true practitoner-scientist, she is passionate about translating the science of nutrigenomics into clinical practice and teaching everyone from students at Rutgers University to clinicians around the world. On This Episode We Discuss: Aspects of our metabolism and eating behaviors that have identified genetic links (Snacking v binging, feeling full, storing calories, etc.) Specific genes that contribute to BMI The role of epigenetics in nutrigenomics Famine studies revealing nutrigenomics insights How nutrigenetic tests work Utilizing information from nutrigenetic tests for personalized diet and exercise plans “DNA Dieting” Genetic conditions that have metabolic symptoms The future of nutrigenomics Check out Dr. Joffe’s podcast, “The Power of Genetics”, in your fav podcaster player. And keep your eye out for a guest appearance from our host, Kira Dineen! Keep up with our guest, Dr. Yael Joffe on Instagram and <a href="https://www.linke
Fri, May 13, 2022
#184 Inherited Retinal Degeneration with Blueprint Genetics
In honor of Vision Health Month and Blindness Awareness Month, we are exploring Blueprint Genetics ’ My Retina Tracker program with Khalida Liaquat, who is a genetic counselor and the Senior Manager of Genomic Services at Quest Diagnostics. Our other guest is Ariana Lichtenstein, who is the Director of Business development at Blueprint Genetics. Blueprint Genetics is a genetic testing company focused on inherited diseases. With a patient-first mindset, they deliver high-quality genetic testing to the global clinical community across 15 medical specialties, with a customer base spanning over 70 countries. By combining a state-of-the-art laboratory process, the latest sequencing technology, AI empowered data-crunching tools and techniques, world-class professionals, and a holistic customer experience approach, we are bringing genetic knowledge to mainstream healthcare. Khalida Liaquat, MS, CGC, is a graduate of the Sarah Lawrence College genetic counseling program and is certified by the American Board of Genetic Counseling and is a licensed genetic counselor in the state of Massachusetts. Khalida is a Senior Manager of Genomics Services at Quest diagnostics and supports the Athena Diagnostics and Blueprint Genetics laboratories. Her clinical work history includes serving as clinical prenatal and pediatric genetic counselor at Kings County Hospital Center and Woodhull Medical Center in Brooklyn, NY. Her special interests include patient advocacy, variant sciences and education. Khalida is an active member of the National Society of Genetic Counselors. Ariana Lichtenstein, MS, graduated cum laude from Vanderbilt University with a degree in Neuroscience. Her passion is the genetics of epilepsy disorders, and she conducted research on dopamine transporter protein in the Department of Pharmacology while at Vanderbilt. She is the Director of Business Development at Blueprint Genetics, managing relationships with BioPharma clients based in the Americas. Ariana has spent the past decade on the commercial side of the molecular diagnostics industry, working for both prenatal and postnatal commercial laboratories. On This Episode We Discuss: Inherited retinal dystrophies (IRD) The My Retina Tracker Program and regist
Fri, May 06, 2022
#183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere Consortium
Last episode (182) we were joined by Dr. Eric Green, the Director of the National Human Genome Research Institute (NHGRI) at the NIH. And we chatted about the recent completion of the human genome. To continue this conversation, I am joined by the co-founders of the Telomere to Telomere Consortium which lead this project! Dr. Karen Miga is an Assistant Professor in Biomolecular Engineering at The University of California, Santa Cruz. She is also the associate director of the UCSC Genomics Institute . The Miga Lab at UCSC focuses on genomic and epigenetic structure within human centromeres and constitutive heterochromatin, which are now emerging to the forefront of genomics. She received a B.S. in biological sciences from the University of Tennessee Knoxville and then went on to get a masters degree in genetics at Case Western Reserve University. Karen received her Ph.D. in genetics and computational biology from Duke University. She was named as “One to Watch” in the 2020 Nature's 10 . Dr. Adam Phillippy is a Senior Investigator and Head of the Genome Informatics Section at the National Human Genome Research Institute (NHGRI) . His lab develops efficient computational methods for analyzing DNA sequencing data, including tools for genome assembly, alignment, clustering, forensics, and metagenomics. He received a B.S. in computer science from Loyola University Maryland in 2002. He first worked as a bioinformatics engineer at The Institute for Genomic Research (TIGR) and later received a Ph.D. in computer science from the University of Maryland in 2010. After graduate school he led a bioinformatics group at the National Bioforensics Analysis Center before joining NHGRI in 2015. In 2019, he was awarded tenure by the NIH and received the U.S. Presidential Early Career Award for Scientists and Engineers. On This Episode We Discuss: The recent announcement about the completion of the human genome sequence The name for this new human reference genome and what the letters stand for How T2T-CHM13 complements the previous human reference genome, GRCh38 Advantages of “long read” over “short read” DNA sequencing technologies Why telom
Fri, April 29, 2022
#182 Eric Green on the Complete Human Genome Project
On this week’s episode of DNA Today we’re discussing the past, present, and future of the Human Genome Project and the Telomere to Telomere Consortium with Dr. Eric Green, director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). The Human Genome Project is an international scientific research project that began in 1990, with the goal of determining the base pairs that make up human DNA, and identifying, mapping, and sequencing all of the genes of the human genome; however, no one chromosome has yet been finished end to end, and hundreds of gaps persist across the genome. The Telomere to Telomere (T2T) Consortium is an open, community-based effort to generate the first complete assembly of a human genome, filling in these unresolved gaps. Our guest today is Dr. Eric Green, the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Throughout his career, Dr. Green has authored and co-authored over 375 scientific publications, a few of which we are chatting about today. As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Throughout his career, Dr. Green has authored and co-authored over 375 scientific publications. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). On This Episode We Discuss: Dr. Green’s involvement in the Human Genome Proj
Fri, April 22, 2022
#181 DNA Experiments with Stephanie Ryan
To celebrate DNA Day we are joined by Dr. Stephanie Ryan! In this podcast episode, Dr. Ryan discusses science education and communication, especially making science understandable for kids. To keep the celebrations going we will be co-hosting a virtual event on DNA Day itself, Monday, April 25th at 6pmET! During this special DNA Day event we will do a live DNA experiment with Dr. Stephanie Ryan. You can follow along at home to do the experiment with us! You can register for the event here . Stephanie Ryan, Ph.D. is a chemist, boy mom, and a social media influencer who enjoys using her background in academia to create educational products and content, helping young kids learn through play about the fascinating world around them. Over the years, Dr. Ryan has taught science to all age groups, both in and out of the classroom, helping toddlers learn about their world and college students define theirs. She is an active member of the chemistry education community and is currently a committee member of the International Activities Committee for the Division of Chemical Education. Ryan earned her Ph.D. in the Learning Sciences and her M.S. in Analytical Chemistry from the University of Illinois at Chicago. She earned her B.S. in Chemistry from Saint Mary’s College. On This Episode We Discuss: Thoughts on correcting kids if they have an incorrect understanding What to do if kids ask questions that we don’t know how to answer Recommended resources for parents/caregivers to foster scientific curiosity in their children from a young age The recommended age kids should start learning about STEM concepts The inspiration behind Dr. Ryan’s book, “ Lets Learn About Chemistry ” Advice for being a science communicator, especially on social media Want a free copy of “Lets Learn About Chemistry”? Head over to our social media to enter our giveaway! Search “DNA Today” on Twitter , Instagram , and Facebook . </
Fri, April 15, 2022
#180 Reproductive DNA Testing with Mitera
We are excited to share that Kourtney Kardashian recently featured in DNA Toda y in an article on Poosh, “ How Genetics Play the Ultimate Role in Health ”. Our host, Kira Dineen, shares insight on genetic counseling and epigenetics. The Chief Medical Officer of Mitera , Dr. Kathy Salari, joins the show. Mitera is a telehealth company that offers a unique care model that uses remote technologies and subspecialty medical oversight to responsibly democratize access to reproductive genetic testing. On this episode, Dr. Salari will be sharing about Mitera’s at-home reproductive genetic testing options including non-invasive prenatal screening and carrier screening. Dr. Kathy Salari is a maternal-fetal medicine subspecialist with expertise in caring for high-risk pregnancies. Her clinical work primarily focuses on reproductive genetics and fetal imaging. She received her Bachelor’s degree in Molecular Genetics from U.C. Berkeley in 2001 and her medical degree from U.C. San Diego in 2008. She then went on to complete her residency in Obstetrics & Gynecology followed by a fellowship in Maternal-Fetal Medicine at the University of Michigan in 2014. Following completion of her training, she began her clinical career as a maternal-fetal medicine specialist in the San Francisco Bay Area. In a period of two years she was named Chair of Clinical Genetics as well as the Director of Fetal Imaging and Perinatal Genetics at Palo Alto Medical Foundation. During her tenure as the director of a high volume fetal imaging center and maternal-fetal medicine group, her passion for timely and accurate diagnosis of birth defects and delivery of evidence-based obstetric care was emboldened. Driven by a vision for bringing subspecialty reproductive health expertise to every pregnant person across the country, she founded Mitera in 2019. By employing a telehealth platform for reproductive genetic testing, she hopes to bridge gaps in maternity care and broaden access to the responsible delivery of diagnostic technologies across the country. On This Episode We Discuss: Inspiration behind Mitera Genetic conditions included in Mitera’s 23Pears carrier screening kit Kira’s experience with 23Pears and what consider she is a carrier of Informed consent process for ordering genetic testing How results are shared with patients Information include
Fri, April 08, 2022
#179 Genetic Testing with Kira Dineen
This week we’re bringing you a special episode of DNA Today! Our host, Kira Dineen, was recently a guest on The Science of Everything Podcast , discussing genetic testing with host, James Fodor. Kira thoroughly enjoyed her experience being a guest on this podcast, so we’ve decided to also release the episode on the DNA Today podcast feed! To give you a teaser… we covered a range of genetic testing topics from the process and science behind the testing, types of conditions that can be tested for, and the difference between genotyping and sequencing. We even discussed direct-to-consumer genetic testing like 23andMe and ancestry including the potential (and current) uses for criminal justice. We speculated about social implications of the testing along with other futures that may be in store for genetic testing. On This Episode We Discuss: The process and science behind genetic testing Types of conditions that can be tested for The difference between genotyping and sequencing Direct-to-consumer genetic testing Social implications of testing The future of genetic testing If you enjoyed James’ interview style be sure to subscribe to The Science of Everything Podcast ! Keep up to date with James and the podcast on Facebook and LinkedIn . Stay tuned for the next new episode of DNA Today on April 15, 2022 where we’ll be discussing reproductive DNA testing with Mitera! New episodes are released on Fridays. In the meantime, you can binge over 175 other episodes on Apple Podcasts , Spotify , streaming on the website , or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel . <p class="" sty
Fri, April 01, 2022
#178 Single-Cell Spatial Genomics with Vizgen
Dr. George Emanuel shares about single-cell spacial genomics in this podcast episode. Dr. Emanuel is the Scientific Cofounder and Director of Technology and Partnerships at Vizgen , a biotechnology company that is dedicated to pioneering the next generation of spatially resolved transcriptomics profiling tools to provide new insight into the biological systems that underlie human health and disease. Spatial genomics is a new frontier in molecular biology, which aims to assay the genomic information of single cells within their native tissue environment, combining spatial transcriptomics with single-cell sequencing. This exciting technology was named Nature’s "Method of the Year 2020" ! Dr. Emanuel has spent the past decade developing high-throughput spatial profiling technologies including extending Vizgen’s MERFISH (Multiplexed Error-Robust Fluorescence in situ Hybridization) technology to profile 10,000 genes in the same sample. He received dual undergraduate degrees from the University of Colorado, and a Ph.D. in Biophysics from Harvard University. On This Episode We Discuss: Single-cell spatial genomics Difference between sequencing genes and analyzing spatial gene expression Insight for researchers through gene expression analysis MERFISH & MERSCOPE Limitations of the testing Areas of research that MERFISH can be applied to How can researchers get access to a MERSCOPE Platform If you’re interested in learning more about Vizgen’s technology, visit their website to play around with the MERSCOPE Vizualizer , and check out their papers on mapping the brain and how MERFISH was demonstrated on 10,000 genes . Keep up to date with the latest developments at Vizgen by following them on Twitter , Facebook , and LinkedIn
Fri, March 25, 2022
#177 Whole Genome Sequencing with PerkinElmer Genomics
World-renowned medical geneticist Dr. Madhuri Hegde, joins the show to explore whole genome sequencing (WGS). She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer , a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine. On This Episode We Discuss: The difference between WES and WGS How WGS differs between laboratories The frequency at which WGS reveals an additional condition/disorder that the ordering providers were not expecting Situations in which trio testing is helpful for WGS Prenatal WGS The future of newborn screening WGS for hereditary cancer syndromes How people learn more about PerkinElmer’s WGS Learn more about WGS at PerkinElmerGenomics.com and follow them on Twitter , Facebook , and LinkedIn . Be sure to follow our guest, Dr. Madhuri Hegde, on LinkedIn . Head over to our social media to enter our giveaway! Search “DNA Today” on Instagram and Twitter. Go to our host’s posts on LinkedIn by searching “Kira Dineen”. There you can enter to win “Modern Clinical Molecular Techniques”. Dr. Hedge is one of the editors. An earlier edition was one of Kira’s textbooks in undergrad! Stay tuned for the next new episode of DNA Today on April 1st 2022, where we’ll be discussing single-cell spatial genomics with Vizgen! New episodes are released
Fri, March 18, 2022
#176 Glee’s Lauren Potter on Down Syndrome Awareness
We are ecstatic to introduce this week’s guest, Lauren Potter! You might know Lauren as Becky Jackson from the TV show Glee. She was in all six seasons playing a character who, like her, has Down Syndrome! After graduating high school and attending college in California, Lauren began acting, starring in her first film at the age of 16. In 2012 she was nominated for a SAG award in the Ensemble in a Comedy Series category for her work in Glee, and she also received the SAG/AFTRA Harold Russell Award at the 2012 Media Access Awards On top of being a fabulous and successful actress, Lauren is also a fierce advocate. President Obama appointed her to the President’s Committee for People with Intellectual Disabilities. She has advocated with AbilityPath, Best Buddies International, the National Down Syndrome Society, The American Association of People with Disabilities, and Special Olympics. We are honored to have Lauren on the show, and the timing couldn’t be more perfect with World Down Syndrome Awareness Day coming up on March 21st! This day was chosen because people with Down Syndrome have three copies of chromosome 21, so the 21st day of the 3rd month. On This Episode We Discuss: What it is like growing up with Down Syndrome Lauren’s experience auditioning for the role of Becky on Glee What Lauren wants people to know about how the R word can affect people Lauren’s advocacy work with Best Buddies and the President’s Committee for people with Intellectual Disabilities “ A Guest Room ” a short film where Lauren was the lead actress and executive producer Inspirational advice for people with Down Syndrome Advice for parents who may have just found out their baby has Down Syndrome Be sure to follow Lauren on Twitter , Facebook , and Instagram to stay up to date on her advocacy work and latest acting roles! <p class="" style="white-space:pre-
Fri, March 11, 2022
#175 Hereditary Cancer Variant Network with Brian Shirts
This week we’re joined by Dr. Brian Shirts to discuss ConnectMyVariant , a service that dedicated to helping patients and families understand unique genetic variants and provides different avenues of informing family, or even people distantly related, of possible inherited risk of diseases like cancer. Dr. Shirts is an Associate Professor of Laboratory Medicine at the University of Washington. His research focuses on integrating complex genetics knowledge into clinical care. His main goal is to help prevent all hereditary cancer. He is currently working to improve strategies to help people with inherited cancer risk connect with close and distant relatives, classify rare variants, and to improve how genetic information is presented to both patients and clinicians. In his clinical role, he is one of a small group of geneticists and laboratory pathologists who supervise BROCA and ColoSeqTM tests for hereditary cancer risk at the University of Washington. On This Episode We Discuss: Common cancer genes The importance of sharing genetic test results with family members What should people consider before posting their variant online and how GINA protects them The inspiration behind creating “Connect My Variant” Why it is helpful to connect with people who have the same variant How genetic counselors and other healthcare providers can share “Connect My Variant” with their patients To connect with other individuals with the same mutations, visit the Connect My Variant message board , and to learn more about cancer genes visit The American Cancer Society and Black Cancer Genes (featured on Episode #159 of DNA Today ). Check out Heather Hample’s article Dr. Shirts mentioned about families in Ohio with Lynch syndrome. Keep up to date with Connect My Variant on Facebook and <a href="https://www.ins
Fri, March 04, 2022
#174 Pharmacogenomics with Fulgent Genetics
This week we’re joined by Gregory Kellog of Fulgent Genetics. In this episode we explore pharmacogenomics. Gregory is the Director of Genetic Counseling at Fulgent Genetics , a technology-based genetic testing company. Prior to serving as the director, Gregory served as the Genetic Counseling Manager at Fulgent, and worked in various roles for other genetic testing companies over the last 7 years including Recombine, Phosphorus, and Illumina. He completed his master of science in human genetics and genetic counseling at Stanford University School of Medicine. On This Episode We Discuss: What is pharmacogenomics? Aspects of metabolizing drugs that pharmacogenomic screening evaluates (i.e. Toxicity, Lack of Efficacy, Hypersensitivity) How pharmacogenomics testing decreases the risk of adverse drug reactions Genetic counseling for pharmacogenomics Roadblocks (ethical, social, legal, privacy) impacting widespread use of pharmacogenomic testing Picture Genetics’ PGx kit You can check out the CPIC Guidelines and the FDA Table of PGx Associations that Greg mentioned during the episode. Discover if the medication you take might be affected by your genetics. See the full list of genes evaluated by Picture Genetics’ PGx test here . Learn more about Picture Genetics on their website , and follow them on LinkedIn , Twitter , Facebook , and Instagram , and keep up with our guest, Gregory Kellog, on LinkedIn . Stay tuned for the next new episode of DNA Today on March 11, 2022 where we’ll be chatting with Brian Shirts from ConnectMyVariant about the Hereditary Cancer V
Fri, February 25, 2022
#173 GRIN1 with Keith McArthur
Joining us for the last episode of rare disease month is Keith McArthur. Keith is the co-founder and CEO of CureGRIN , a non profit rare disease organization. He is also a published author and he’s a fellow science podcaster, Unlocking Bryson’s Brain (one of our favorite podcasts!). But most importantly, Keith is the loving father of Bryson, who was diagnosed with a GRIN1 related disorder. Keith McArthur got a second chance at life in 2017 when his little sister donated her kidney for transplant. Now, he writes and podcasts about his journey to becoming happier and healthier. Keith is the creator of My Instruction Manual — a website, podcast, and book series providing high-quality, personal-development content. Previously, Keith has worked as an award-winning journalist, a social media and public relations strategist, and a senior executive at one of Canada’s largest companies. He has written and edited several books, and serves as the president and publisher of FanReads Inc. His newest self-help book is Winning Resolutions: Achieve Your Biggest Goals and Wildest Dreams Once and For All . Keith’s previous book — 18 Steps to Own Your Life — was a silver medalist in the Non-Fiction-Motivational category of the 2018 Readers’ Favorite Awards . On This Episode We Discuss: GRIN1 mutations and GRIN1-related disorders Bryson’s diagnostic odyssey Connecting with other GRIN families Keith’s motivation for starting CureGRIN How the public interacts with individuals in the rare disease community GRIN1 research in mice and the “Bryson” mouse To learn more about GRIN1 research, check out GRIN Therapeutics , which focus entirely on developing potential treatments for the GRIN community. You can also head over to Homology Medicines, Inc that Keith mentioned during our recording. <p class="" style="white-
Fri, February 18, 2022
#172 PhenoTips: Advances in Rare Disease Diagnosis
DNA Today ’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series . This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “Advances in Rare Disease Diagnosis”, which is hosted by Kira’s colleague, Dr. Pawel Buckowicz. With over 6,000 rare diseases, reaching diagnosis is a long and arduous process for the 300 million people worldwide affected by rare disease. Advances in technology, collaboration, bioinformatics and more hold the promise to end or reduce this diagnostic odyssey. To address these advancements, PhenoTips invited Dr. Stephen Kingsmore, Dr. Marshall Summar, and Dr. Ellen Thomas. Dr. Stephen Kingsmore, the inaugural President & CEO of the Rady Children’s Institute for Genomic Medicine, previously held roles as Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, President & CEO of the National Center for Genome Resources, and Chief Operating Officer of Molecular Staging Inc. Dr. Kingsmore’s rapid genome diagnosis was ranked as one of the top 10 medical breakthroughs of 2012 by TIME magazine, and his 26-hour genetic sequencing garnered him the Guiness World Record for the fastest genetic sequencing in the world. Dr. Marshall Summar is the Margaret O’Malley Professor of Genetic Medicine and Chief of the Division of Genetics and Metabolism at Children’s National Hospital. In addition, he launched and directs Children’s National’s first clinical Rare Disease Institute, the largest clinical division of its kind treating over 8,000 rare disease patients per year. Dr. Summar currently chairs the National Organization for Rare Disorders’ Scientific and Medical Advisory Committee as well as Co-Chairing the Research Committee for the Rare Disease Diversity Coalition. His research focuses on adapting knowledge from rare diseases to mainstream medicine. Dr. Ellen Thomas is Clinical Lead for Rare Disease and Clinical Safety Officer at Genomics England, Clinical Advisor to the Genomics Unit at NHS England and Improvement, and a Consultant in Clinical Genetics at Guy’s and St Thomas’ NHS Trust. As part of the Genomics England Science Team led by Professor Sir Mark Caulfield, she has worked on delivery of the 100,000 Genomes Project, and now focuses primarily on Genomics England’s contributions to the Genomic Medicine Service, as well as supporting the interface between research and clinical care for pa
Fri, February 11, 2022
#171 Farber Disease with Aceragen
In honor of Rare Disease Month we are continuing to highlight different rare diseases. This week we explore Farber Disease with Dr. Alex Solyom, Senior Vice President of Rare Disease Development at Aceragen , and Katie Crosby, is a certified genetic counselor and the Associate Director of Patient Engagement. Dr. Alex Solyom is a pediatrician with real-world expertise in rare diseases, sphingolipid biology, inflammation and pediatric rheumatology. He has over 13 years of clinical and translational research experience, with 8 years in rare disease pharma therapeutic lifecycle development. In his role at Aceragen, he is involved in the strategic planning and execution in clinical and translational research, lifecycle development, medical, scientific and patient affairs. He has been the architect of rhAC clinical development program from its inception and is responsible for clinical and translational development, medical and patient affairs, as well as medical and scientific discussions with FDA and EMA with a focus on delivering benefit to patients and other stakeholders efficiently and effectively. Katie Crosby joined Aceragen with over 8 years of experience working in clinical care and research for rare diseases. As a board-certified genetic counselor, Katie specializes in supporting patients and families to understand and navigate their genetic diagnoses.Before joining Aceragen, Katie served as a clinical genetic counselor and lysosomal storage disease program coordinator in the Rare Disease Institute at Children’s National Hospital. During her time there, she supported patients through diagnosis and long-term management as well as managed multiple clinical trials, natural history studies, and patient registries for lysosomal storage disorders, including Pompe disease, Gaucher disease, Fabry disease, MPS II, MPS IVA, MPS VII, and Farber disease. Katie also worked as a tele-medicine genetic counselor and team lead at Metis Genetics. Katie received a Bachelor of Science in biology from Villanova University and a Master of Science in Genetic Counseling from the Icahn School of Medicine at Mount Sinai. On This Episode We Discuss: Farber disease and the larger family of lysosomal storage disorders Diagnosis and misdiagnosis of Farber disease The inheritance pattern of Farber disease and screening for the disease Available treatments for Farber disease and those in development by Aceragen <p cl
Fri, February 04, 2022
#170 Mitochondrial Disorders with Alejandro Dorenbaum
To celebrate February as rare disease month we will be interviewing leaders in rare diseases throughout the month! In this episode we explore new research in one of the mitochondrial disorders, primary mitochondrial myopathy (PMM). Joining us for this conversation is Dr. Alejandro Dorenbaum, the Chief Medical Officer of Reneo Pharmaceuticals , who is currently studying an investigational therapy for PMM. Dr. Dorebbaum is a board-certified allergist-immunologist with over 25 years of experience in drug development and clinical trials. Prior to serving as the CMO of Reneo Pharmaceuticals, he served as the Chief Medical Officer of several other pharmaceutical companies, where he achieved proof-of-concept in clinical trials for novel therapeutic antibodies targeting inflammatory cells. He received his medical degree from the National Autonomous University in Mexico City, and completed his residency in pediatrics at the University of Texas Health Science Center and held fellowship in allergy and immunology at Baylor College of Medicine. He maintains an active academic position as Clinical Professor in Pediatrics at Stanford University School of Medicine. On This Episode We Discuss: The function of the mitochondria Challenges of living with a mitochondrial condition How primary mitochondrial myopathies (PMM) are unique How the percentage of affected mitochondria correlates with the severity of symptoms What Reneo doing to help diagnose more patients with PMM Reneo’s STRIDE study for treatment of PMM To learn more about the STRIDE study, check out the study website or search for it on Clinicialtrials.gov . Be sure to follow Alejandro on LinkedIn and Reneo Pharmaceuticals on Twitter . Stay tuned for the next new episode of DNA Today on February 11, 2022 where we’ll be discussing Farber disease with Aceragen! In the meantime, you can binge over 170 other episodes on Apple Podcasts , <a href="https://open.spotify.com/show/2TbRJMsOOeUTphJTqIYc6E?si=L
Fri, January 28, 2022
#169 Cytogenomics with Phase Genomics
On this week’s episode of DNA Today, we are joined by 2 scientists from Phase Genomics . Dr. Ivan Liachko is the Founder and CEO of Phase Genomics and has worked in the genetic/genomic research field for over 20 years. He has authored over 20 peer reviewed papers and created multiple patents specializing in the field of microbial genomics and synthetic biology. Dr. Liachko is one of the original inventors of the Hi-C assembly and metagenomic deconvolution and has over a decade of experience in scientific management and mentorship. He received his PhD from Cornell University. Our other guest is Dr. Stephen Eacker, VP of Research and Development for Phase Genomics, who is also a lifelong scientist. Prior to starting his role as VP, he served as a Senior Research Scientist and was part of the faculty at Johns Hopkins University where he was the Principal Investigator of a laboratory focused on using the ribosome as a platform for understanding neurobiology. He received his PhD from the University of Washington in Genome Sciences/Genomics. On This Episode We Discuss: Next generation cytogenomic technologies like CytoTerra and OncoTerra Why ultra-long-range sequencing is advantageous compared to other approaches Types of chromosomal abnormalities that can be identified with this technology Identifying genetic changes that lead to pregnancy losses and how identifying these changes can help with future pregnancies How researchers can get early access to CytoTerra Interested in today’s episode topic? Watch this webinar from Phase Genomics about next generation cytogenomics for reproductive genetics and oncology, and read this press release about Phase Genomics’ new platform to detect chromosomal abnormalities. To learn more about Phase Genomics, be sure to follow them on Twitter , Facebook , <a
Fri, January 21, 2022
#168 Polygenic Risk Scores with Giordano Bottà
Enter a giveaway on our social media! Win free enrollment to a 3-hour course in the Allelica PRS clinical academy covering the research behind PRS to clinical applications. You can enter by looking for us on Twitter, LinkedIn, and Instagram. This has been posted at 9am on January 21st and will end on February 4th. Our guest this week is Giordano Bottà, a biologist and bioinformatician, who is joining us to discuss polygenic risk scores. Giordano earned a PhD in Public Health and he has extensive experience in analysis of large genomics dataset. During his career he has had the opportunity to work with some of the top genomics experts in the world at the University of Oxford, publishing in the journal Nature. He is a co-founder and CEO of Allelica , which created a software to help clinical genetics labs to perform polygenic risk score analysis. On This Episode We Discuss: Defining polygenic risk scores (PRS)? How PRSs are empowering the next generation of clinical genomics Types of conditions that PRS can be calculated for Who can benefit the most from PRSs How Allelica is addressing the underrepresentation of people of Non-European descent in genetic studies with PRS Using PRS to assess risk for heart disease and cancer To learn more about Giordano, check him out on Twitter , LinkedIn and Instagram , and stay up to date with Allelica on Twitter and LinkedIn . Stay tuned for the next new episode of DNA Today on January 28, 2022 where we’ll be discussing cytogenomics! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 165 other episodes on Apple Podcasts , Spotify , <a
Fri, January 14, 2022
#167 PhenoTips: Future of Cancer Genetics
DNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series . This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Future of Cancer Genetics”. Thanks to advancements in genome sequencing, physicians are equipped with improved knowledge on the causes of cancer, as well as alternative treatment options for specific cancers. Despite this growing wealth of cancer genomics data, experts remain unclear on how to translate cancer genetics knowledge into realizing precision medicine. To prepare practitioners for the future of cancer genetics, PhenoTips invited Dr. Banu Arun and Dr. Mark Robson to share their insights. Dr. Arun is a Professor in the Department of Breast Medical Oncology, Co-Medical Director of the Clinical Cancer Genetic Program, and Section Chief of Breast Genetics, Prevention, and Screening at the University of Texas MD Anderson Cancer Center. Hailed by Forbes as one of the top 30 Breast Medical Oncologists in the United States, she has received the FASCO award recognition in 2020 from the American Society of Clinical Oncology (ASCO) and the ASCO-American Cancer Society 2021 Award. Dr. Arun has more than 200 peer-reviewed publications with research focusing on identifying risk biomarkers for breast cancer, and characterizing risk factors in high-risk women with hereditary gene mutations as well as assessing their breast cancer biology. In addition she has reviewed for prestigious journals, such as BMJ, JCO, Cancer, Cancer Prevention and Epidemiology, and served in several committees including her current position as the Co-Chair for the SWOG Prevention and Epidemiology Committee. Dr. Robson is the Chief of the Breast Medicine Service in the Department of Medicine at Memorial Hospital, New York, Attending Physician on Breast Medicine and Clinical Genetic Services, and a Member of the Memorial Sloan Kettering Cancer Center. He is an associate editor for the Journal of the National Cancer Institute and a Fellow of the American Society of Clinical Oncology (ASCO), as well as a past chair of the ASCO Ethics Committee. His clinical research is on the optimal application of germline information to the management of cancer patients. He has been a lead investigator for trials of PARP inhibitors in patients with BRCA mutation–associated breast cancer and is currently developing new models for the acquisition of germline information, including "mainstreaming" through test orderi
Fri, January 07, 2022
#166 Beta Thalassemia with Radhika Sawh
Spotify just released a new feature, the ability for listeners to rate podcasts. If you’ve enjoyed the podcast PLEASE rate on Spotify ! This is how new listeners will find and enjoy the show. In order to rate you need to use the Spotify app and listen to at least 30 seconds of the podcast. Under the logo you will see “No Rating”, click on that and give us 5 stars. Since this is a brand new Spotify feature rating now will help us rank higher among science podcasts! We also wanted to give a shoutout for a Twitter Spaces conversation Dena Goldberg (Dena DNA) and Kira Dineen co-hosted this past Monday. A bunch of genetic counselors and genetic experts joined us in the live discussion about the NY Times article that was featured on the front page this week. The recorded audio is not top quality, which is why we didn’t release it as a podcast episode, however the conversation is top quality. To kick off 2022 and celebrate national Blood Donor Month, genetic counselor Radhika Sawh joins our host Kira Dineen on the podcast to discuss beta thalassemia. Radhika is a genetic counselor and patient advocate for thalassemias. She worked as the National Director of Patient Services for the Cooley's Anemia Foundation prior to joining the faculty of the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College (where she met our host Kira Dineen!) Radhika has a personal tie to the community as she has beta thalassemia major and frequently speaks on behalf of the New York Blood Center as a volunteer blood donor advocate. On This Episode We Discuss: Types of thalassemias How beta thalassemia has impacted Radhika’s life The evolution of treatments for beta thalassemia and their impact on life expectancy for those with the condition The genetic difference between sickle cell and beta thalassemia What Radhika wants genetic counselors and other healthcare providers to understand about the experience of living with beta thalassemia <p class="" style="white-sp
Fri, December 17, 2021
#165 Sequencing for Cancer Risk with Sandra Balladares
In this week’s episode, our host, Kira Dineen, is joined by Dr. Sandra Balladares to explore utilizing sequencing to assess inherited cancer risk. On This Episode We Discuss: Sandra’s personal experience with breast cancer The difference between Sanger Sequencing and Next Generation Sequencing Sequencing versus genotyping Various number of genes on a hereditary cancer panel How the availability and accessibility of genetic testing differ around the world Dr. Balladares is currently the HLA Typing Franchise Leader at Thermo Fisher Scientific. She formerly held positions at Illumina , most recently as Staff Segment Marketing Manager Oncology. Sandra holds a Ph.D. in molecular biomedicine, is a mother of two young children, and breast cancer survivor who advocates for genetic testing in developing countries and among ethnic minorities. Learn more about Sandra by reading this Illumina article about her journey, or check her out on LinkedIn . Did today’s episode topic peak your interest? Read the article, Inherited Cancer in the Age of Next-Generation Sequencing , that inspired our questions! Stay tuned for the next episode of DNA Today in the new year on January 7th, 2022! We’ll be joined by genetic counselor and patient advocate Radhika Sawh to discuss Thalassemia and blood donor awareness. New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 165 other episodes on Apple Podcasts , Spotify , streaming on the website , or any other podcast player by searching, “DNA Today”. All episodes in 2021 are also recorded with video which you can watch on our YouTube channel . See what else we are up to on <a href="https://twitter.com/DNA
Fri, December 03, 2021
#164 Parkinson’s Disease with the Parkinson’s Foundation
This week our host, Kira Dineen, is joined by Dr. James Beck and Dr. Ignacio Mata to discuss Parkinson’s Disease and diversity in genetic Parkinson’s research. On This Episode We Discuss: How Parkinson’s Disease (PD) affects the body Genes that play a role in the development of PD Genetic testing for family members of patients with PD The PD GENEration project and how it is helping people with PD Underrepresentation of Hispanic people in PD genetic research How to achieve more inclusivity with research in the PD space Learn more through the “Substantial Matters: Life and Science of Parkinson’s” podcast. Here is a list of episodes specifically about the PD GENEration study we have been discussing. Check out more about the PD GENEration on the Parkinson’s Foundations website , including how to enroll in the study. If you have questions about enrollment send them to genetics@parkinson.org . PD GENEration también ofrece pruebas genéticas y asesoramiento en Español. Para más información visite http://parkinson.org/pdgene To stay up to date on the latest PD news and research follow The Parkinson’s Foundation on Twitter , Facebook , LinkedIn , and Instagram . And be sure to check out Dr. Beck ’s, and Dr. Mata ’s on Twitter! Dr. James Beck is the Senior Vice President and Chief Scientific Officer at The Parkinson's Foundation . In his role, Dr. Beck sets the strategic direction for the Parkinson’s Foundation research vision, and oversees a portfolio which has guided more than $360 million in research to explore what causes Parkin
Fri, November 19, 2021
#163 Rachel Pastiloff & Krystle Davis On Prader-Willi Syndrome
On this episode we are joined by 2 guests, Rachel Pastiloff and Krystle Davis, who share their insight on Prader-Willi Syndrome. On This Episode We Discuss: Genetic causes of Prader-Willi Syndrome (PWS) Challenges faced by caregivers of patients with PWS PWS symptom management Harmony Bioscience’s phase 2 clinical study in PWS Requirements for study participation Check out some commonly asked questions and additional caregiver perspectives on Prader-Willi, and follow Rachel on Instagram to stay up to date on her journey. Refer your patients to Knowrare to join the study here . Stay tuned for the next new episode of DNA Today on December 3rd where we will be interviewing two experts from the Parkinson’s Foundation on diversity in Parkinson’s research! New episodes are released on the first and third Friday of the month (with some bonus episodes). In the meantime, you can binge over 160 other episodes on Apple Podcasts , Spotify , streaming on the website , or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on our YouTube channel . See what else we are up to on Twitter , Instagram , Facebook , YouTube and our website, DNApodcast.com . Questions/inquiries can be sent to info@DNApodcast.com . <br
Fri, November 12, 2021
#162 PhenoTips: Future of Genetic Counseling
DNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Future of Genetic Counseling”. This episode features Past President of the National Society of Genetic Counselors, Amy Sturm, and Past President of the American Board of Genetic Counseling, Erynn Gordon. Amy and Erynn draw on their decades of experience in genetic counseling to prepare for the fast approaching future of genetic counseling. As genomics become common practice in mainstream healthcare, clinical genetics is expected to expand from focusing on rare diseases to common and preventable and/or treatable conditions. While the details and timeframe of this transition is unknown, it is clear that genetic counselors are poised to champion this change and transformation. To prepare for this fast approaching future, PhenoTips invited Amy Sturm and Erynn Gordon to share their experience-based insights. Erynn Gordon is currently the Founder and President of Ripple Genetics Consulting, with prior VP and Presidency roles at Genome Medical, 23andMe, and the Coriell Personalized Medicine Collaborative. With 20 years of experience, Erynn has been deeply engaged in the genetic counseling community, having served as past president of the American Board of Genetic Counseling and on the Board of Directors for the National Society of Genetic Counselors. Amy Sturm is a Genetic Counselor and Professor within the Genomic Medicine Institute at Geisinger with nearly 20 years of experience in the field of genetic counseling. Amy was the 2019 President of the National Society of Genetic Counselors, and currently serves as the Chair of the Advisory Board to the NIH All of Us Research Program’s Genetic Counseling Resource and Co-Chair of the NLA Genetics Working Group. In addition, she is on the NLA Scientific Statements Committee and the American Heart Association’s Advocacy Coordinating Committee and Genomic and Precision Medicine Leadership Committee of the Council on Genomic and Precision Medicine. In this discussion with Kira Dineen, Amy Sturm, and Erynn Gordon will draw on their experiences to provide insights on: Historic and current uses of technology in genetic counselling Future applications of
Fri, November 05, 2021
#161 Phenotips: Digital Tools in Genetic Counseling
DNA Today’s host Kira Dineen is also the host of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. In this podcast episode we are sharing an installment of the PhenoTips Speaker Series, “The Adoption and Impact of Digital Tools in Genetic Counseling”. This episode features a panel of genetic counselors, who are digital champions at their respective practices, discuss the impact of digital tools on their departments as well as their experience and insights championing the adoption of digital tools. As genetic testing becomes increasingly common, genetic counselors face increasing demand that they struggle to meet due to low numbers of genetic professionals in clinical care. Supplementing genetic counseling practice with digital tools is necessary in order to provide essential services while mitigating burnout, but genetic counselors and genetic departments face significant barriers to adoption. To help lessen these barriers, PhenoTips invited genetic counselors Scott Weissman, Amy Taylor and Andrew McCarty to share their experiences becoming digital champions, gathering departmental support, and the clinical impact their departments have experienced since adoption. Dr. Amy Taylor is the Lead Consultant Genetic Counsellor at Cambridge University Hospitals NHS Foundation Trust. With over a decade of experience in Genetic Counseling, she heads a team of 14 Genetic Counsellors who provide high quality service to patients in the East Anglia region. Her specialist interests include cancer genetics, cardiac genetics and neurofibromatosis type 2, and for the last six years she has been a member of the UK Cancer Genetics Group Council. Amy’s articles have been published in prestigious journals such as Clinical Genetics and Journal of Medical Genetics. Andrew McCarty is a Laboratory Genetic Counselor at Perkin Elmer Genomics. He also operates a private practice based out of Pittsburgh called Clover Genetics working to improve access to genetic services. With a passion for providing genetic education to healthcare providers, students, and individuals seeking care, Andrew has authored numerous scholarly articles, including research on the use of the digital tool Proband in pedigree construction and assessment published in the Journal of Genetic Counseling. Scott Weissman, an NSGC Digital Ambassador, has over 15 years of experience in adult-onset genetic disorders and cancer genetics. He is the founder Chicago Genetic Consultants, LLC and the Cancer Services Lead at tele-
Fri, October 29, 2021
#160 Sura Alwan on Teratogens
Joining us this episode is Dr. Sura Alwan, the Co-Director of TERIS, The Teratogen Information System, a clinical resource that assesses teratogenic risks of pregnancy exposures on the fetus. On This Episode We Discuss: Causes and prevention of birth defects Teratogens Impact of teratogenic exposure on fetal development Medications and vaccinations during pregnancy Exposure to THC during pregnancy The TERIS database Check out TERIS , a clinical electronic resource that contains information on the teratogenic risks of over 1,700 medications and other environmental exposures and infections , including 200 of the most frequently prescribed drugs. Use code “DNAToday” for your free no obligation 2-week evaluation license. To learn more, visit the TERIS website , or check them out on Twitter , Facebook , and LinkedIn , and be sure to navigate to their COVID-19 virus and vaccine summary for more information and Teratology studies. In addition to serving as the co-director of TERIS, Dr. Alwan holds professional positions at the University of Washington and the University of British Columbia. Her background education is in Human Genetics where she received a BSc Honours degree from the University of Nottingham in the UK and an MSc in Medical Genetics from the University of Glasgow, UK. Dr. Alwan acquired her PhD in the area of birth defects epidemiology and teratology from the University of British Columbia in BC, Canada. Dr. Alwan’s research interests revolve around identifying exposures in pregnancy that may pose a risk to the developing fetus and contribute to causing birth defects and other adverse pregnancy outcomes. Stay tuned for the next new episode of DNA Today on November 5, 2021, where we’ll feature an episode of the Phenotip’s Speaker Series about the adoption of digital tools in genetic counseling! New episodes are released on the first and third Friday of the month. In the me
Fri, October 15, 2021
#159 Black Cancer Genes on Breast Cancer
We are ecstatic to announce that DNA Today won the Best 2021 Science and Medicine Podcast Award . A HUGE thank you to all you listeners who nominated and voted for the show. It is such an honor to win this award two years in a row. As you may recall, this is a People’s Choice Award, so it truly is thanks to your support that we won. It’s been such a fun journey over the last 9 years hosting and producing DNA Today and it’s because of you listeners that we have amazing sponsors who keep the show running. Thank you all again! We have so many more episodes to bring you and we hope you keep tuning to learn more about genetics. In honor of breast cancer awareness month, Kira Dineen is joined by two representatives from Black Cancer Genes, Erika Stallings and Dena Goldberg (aka DenaDNA). Erika Stallings is an attorney, writer and BRCA awareness advocate. In June 204 she learned that she carried a BRCA2 gene mutation, a hereditary cancer mutation that causes up to an 85% lifetime risk of developing breast cancer. In December 2014 she underwent a preventative double mastectomy which lowered her risk of breast cancer to less than 5%. Dena Goldberg Linder, MS, CGC (DenaDNA) is a licensed and board certified genetic counselor. She attended the University of Illinois in Champaign-Urbana for her undergraduate studies where she worked in a Molecular Anthropology lab studying ancestry genetics. Dena graduated from the Genetic Counseling Graduate program at UC Irvine. She worked at the UCSF Cancer Genetics and Prevention Program for four years as the Gordon and Betty Moore Endowed Counselor of Hereditary GI Cancer Prevention. Dena recently left this full time role to pursue Dena DNA and sees patients through Genome Medical. You can also hear her on episode 155 of DNA Today discussing genetic counseling grad school. On This Episode We Discuss: Black Cancer Genes Genetic testing for breast cancer Breast cancer risk among BRCA1/2 carriers Racial disparities in breast cancer diagnosis Genes prevalent in the black community Raising awareness about genetic counselin
Fri, October 01, 2021
#158 Mark Kiel on ALS Genetics
In this episode we are exploring the genetics of ALS with Mark Kiel, the Chief Science Officer and Co-Founder of Genomenon . Genomenon is an AI-driven genomics company that keeps pace with the constant advancements made in genomics and connects that research to patient DNA to help diagnose and treat patients with rare genetic diseases and cancer. Mark Kiel completed his M.D., Ph.D., and Molecular Genetic Pathology Fellowship at the University of Michigan, where his research focused on stem cell biology, genomic profiling of hematopoietic malignancies, and clinical bioinformatics. He is the founder and CSO of Genomenon, where he oversees the company’s scientific direction and product development. Mark has extensive experience in genome-sequencing and clinical data analysis. On This Episode We Discuss: Overview of ALS How ALS is diagnosed Causes of ALS Genetic testing for pathogenic variants Expansion of the list of causative genes and variants for ALS Uncovered trends in age at onset and rate of progression New data on the prevalence of gene mutations in ALS Validation of the novel utility of the genomic landscape for ALS To learn more about Genomenon and the findings from their comprehensive Genomic Landscape for ALS, visit their website , or check them out on Twitter and LinkedIn . Stay tuned for the next new episode of DNA Today on October 15th where we welcome Erika Stallings and Dena Goldberg to discuss the organization, Black Cancer Genes, in honor of breast cancer awareness month! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 150 other episodes on Apple Podcasts , Spotify , streaming on the website , or any other podcast player by searching, “DNA Today”. Episodes in 2021 are also recorded with video which you can watch on <a href="https:
Sun, September 26, 2021
#157 NSGC 2021 Recap
The National Society of Genetic Counselors’ (NSGC) 40th annual conference occurred virtually this past week. In this special extended installment of DNA Today we are recapping and reflecting on a few sessions from the conference. You can also check out our recap episodes of 2020 and 2019 . Guests Laura Hercher has been a genetic counselor for nearly two decades. She is also the host of fellow genetics podcast, The Beagle Has Landed . She is a faculty member and director of student research at the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College , the country’s first and largest training program for genetic counselors. Hercher is a writer and commentator with publications including articles in Wired, Aeon and Scientific American as well as peer reviewed journals. She is a co-founder of the DNA Exchange , a blog for the genetic counseling community founded in 2009, which has grown to over 100,000 views in 2017. Sally Rodríguez is a licensed and board-certified genetic counselor who specializes in the area of reproductive genetics, with expertise in expanded carrier screening (ECS), noninvasive prenatal screening (NIPS), and preimplantation genetic testing (PGT). Sally was an early-stage employee at Recombine, a genetic testing laboratory focused on reproductive genetics, and developed and managed the lab’s ECS and NIPS offerings through the company’s acquisition by CooperSurgical. Currently, she serves as a genetic counselor at Sequence46 , a PGT laboratory. She received her Bachelor's degree in Molecular Biology from Princeton University in 2009 and her Master's degree in Genetic Counseling from The Johns Hopkins University Bloomberg School of Public Health in 2013. Sally is an active member of NSGC, the American Society for Reproductive Medicine (ASRM), and the Minority Genetics Professionals Network (MGPN). NSGC 2021 Conference Session OD01: Advocating for Autonomy: Genetic Counselors as Champions for Comprehensive Reproductive Health with Laura Hercher <p class="" style="white-space:pre
Fri, September 17, 2021
#156 Rich Horgan on Duchenne Muscular Dystrophy (DMD)
Joining our host, Kira Dineen, is Rich Hogan. Rich is the Founder and President of Cure Rare Disease, a company that develops customized therapeutics for those who have been diagnosed with rare, genetic diseases that have no treatments or cures. On this episode, we specifically sat down to discuss Duchenne Muscular Dystrophy during DMD awareness month! Rich Hogan has a deep passion for reimagining how rare and ultra-rare diseases are treated. With a younger sibling impacted by a rare disease, Rich has a strong interest in accelerating promising treatments for rare diseases. He formed an interdisciplinary collaboration of world-class researchers and clinicians to pioneer the rapid development of customized therapies for rare, genetic diseases. Prior to making his foray into biotech, Rich had extensive experience working in new business development at Corning Incorporated where he led the successful launch of a new product line. He also launched a successful car washing business in New York. He holds a BS from Cornell University where he graduated summa cum laude and an MBA from Harvard Business School where he was awarded the Blavatnik Fellowship for Life Science Entrepreneurship. Rich was recognized by Business Insider as one of ‘30 leaders under 40 transforming healthcare in 2020’ and, most recently, was named on the 2021 Forbes 30 under 30 list. On This Episode We Discuss: Patient advocacy DMD heredity Founding Cure Rare Disease Current and developing treatments for DMD In-vitro versus in-vivo research Neutralizing antibodies To learn more about Rich, DMD, and Cure Rare Disease at cureraredisease.org . If you live in Canada, check out Muscular Dystrophy Canada at muscle.ca, which serves 50,000 Canadians impacted by neuromuscular disorders themselves, family members/caregivers, healthcare professionals, and researchers. They support individuals impacted by neuromuscular disorders by investing in research, delivering critical programs and services, and challenging public policy. Genomenon is a genomic health IT company powering precision medicine with genomics. <p class="" style="white-space:pre-w
Fri, September 03, 2021
#155 Genetic Counseling Grad School FAQs
This episode is an edited recording of the clubhouse meeting Kira Dineen and Dena Goldberg (Dena DNA) hosted on August 26th, 2021 in the “Genetic Counseling and the Future of Healthcare”. We explore making the most of the genetic counseling graduate school experience. Since this was recorded on Clubhouse, the audio is not as high quality as our other episodes. Preparing for a career in genetic counseling? Check out Keck Graduate Institute in Claremont, California! At KGI, you will gain the training and development to become an innovative, collaborative, and caring genetic counselor. KGI prepares graduates to be leaders among healthcare professionals dedicated to the delivery of advanced personally-optimized patient care and the translation of applied and clinical science breakthroughs to enhance the quality of life. So if you want to be a genetic counselor, check out KGI at kgi.edu/dnatoday . Again that’s kgi.edu/dnatoday . Hosts: Kira Dineen , MS, LCGC, CG(ASCP)CM is a licensed certified prenatal genetic counselor at Maternal Fetal Care, PC in Connecticut. Kira also has 10 years of online media experience in digital marketing and podcasting/radio including 5 podcasts. She started her main show “DNA Today: A Genetics Podcast” in 2012 which became a radio show in 2014. The podcast has since produced over 150 episodes interviewing experts in the field. “DNA Today” won the People’s Choice Podcast Awards for the Best 2020 Science and Medicine Podcast . Kira is also the host of the PhenoTips Speaker Series , a live webinar interviewing genetic experts attended by over 700 genetic counselors around the globe. She writes a monthly blog series, “ Explained By A Genetic Counsellor ” for Sano Genetics. She received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. Kira received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York. Dena Goldberg Linder , MS, CGC (DenaDNA) is a licensed and board certified genetic counselor. She attended the University of Illinois in Champaign-Urbana for her un
Fri, August 20, 2021
#154 Kenneth Kovan & David Berd on Haptenized Vaccines
You did it! DNA Today has been nominated for the Best 2021 Science and Medicine Podcast Award . If you nominated us, check your inbox to see if you were one of the people randomly selected to vote for the show! I was this year and received the email on August 9th. So pause the show now and check to see if you got the email. If you did please go ahead and vote for DNA Today, we need all the votes we can get to defend our title as the best Science and Medicine podcast! This week our host, Kira Dineen, is joined by Kenneth Kovan and Dr. David Berd of BioVaxys , a clinical-stage biopharma company developing antiviral and anticancer vaccine platforms using haptenized viral protein technology. Kenneth Kovan is the Founder, President, and COO of BioVaxys. He has over 30 years of experience in biopharmaceuticals commercial development. Mr. Kovan’s professional background includes several years in technology transfer with Thomas Jefferson University, Strategic Marketing with GlaxoSmithKline, and Global New Product Development with Wyeth-Ayerst Pharmaceuticals. His therapeutic experience includes infectious disease, antivirals, oncology, vaccines, cell/gene therapy, and gene editing. Mr. Kovan has a broad international business background, having launched pharma brands in Latin American and Asia/Pacific markets, and has worked in Europe for several years. David Berd, MD is the Founder and Chief Medical Officer of BioVaxys. He is a medical oncologist with a lifelong record of clinical research in medical oncology and cancer immunotherapy. As National Director for Immunotherapy at Cancer Treatment Centers of America, Dr. Berd investigated the application of the AC vaccine to ovarian cancer. Previously, Dr. Berd was Professor of Medicine at Thomas Jefferson University, where for 20 years he conducted clinical research on melanoma immunotherapy. He also spent nine years as a research physician at Fox Chase Cancer Center. Over the course of his career, Dr. Berd has published more than 85 original papers in numerous medical journals alongside dozens of editorials, reviews and abstracts. He has ten issued patents dealing with cancer vaccines. Have you been vaccinated for COVID-19? Wouldn’t it be handy to have a digitized version of your vaccine record? States in the US are starting to do just this, with California leading the way. However privacy concerns have been raised about the personal information being kept in a central database. Genobank.io<
Fri, August 06, 2021
#153 Dayan Goodenowe on Dementia
Did you know genetic changes account for an estimated 10-15% of all Parkinson’s disease? And these genetic changes can be passed down to family members. That's why Picture Genetics just released Picture PD Aware, an at-home DNA kit that tests for changes in seven genes associated with Parkinson’s disease. Picture PD Aware is easy to order and understand with good looking reports! Plus you are fully supported through live chats, emails and genetic counseling. To order your Picture PD Aware kit over at picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. Joining our host, Kira Dineen, this week Dr. Dayan Goodenowe. He is the Founder, President, and CEO of Prodrome Sciences Inc., and the Author of Breaking Alzheimer's: A 15-Year Crusade to Expose the Cause and Deliver the Cure , a novel about biomarkers of dementia and Alzheimer’s disease, and the science and clinical applications of plasmalogens for the therapeutic treatment of Alzheimer’s disease. Dr. Goodenowe’s primary professional interest is the advancement of precision preventative medicine into mainstream medical practice. The achievement of this goal involves the integration and translation of various scientific and technological fields such as basic biochemistry, biomarker discovery, diagnostic technology, biostatistics, clinical trial design and execution, targeted therapeutic development, epidemiology, and healthcare economics. The prevention and treatment of neurodegenerative diseases is his primary focus. As the founder and CEO of Prodrome Sciences Inc., his primary responsibility is to build a next-generation team of dedicated researchers and other professionals and to work with and continue to grow his team such that Prodrome Sciences Inc. can reach its ultimate goal of saving lives and improving quality of life by implementing our targeted strategy of disease prevention through prodrome detection and treatment. On This Episode We Discuss: Dementia vs Alzhiemer’s disease APOE gene’s role in Alzheimer’s disease Methods to counteract APOE status Correlation between plasmalogens and dementia <p class="" style="white-space:pre-w
Tue, July 20, 2021
Nominate "DNA Today" For The Podcast Awards
PodcastAwards.com Select “DNA Today: A Genetics Podcast” in the Science & Medicine Category If you enjoy our episodes we would really appreciate you nominating us in the Podcast Awards. We are hoping to defend our title as the Best Science and Medicine Podcast! In order to do this, we need YOU listeners to get DNA Today nominated at podcastawards.com in the “Science in Medicine” category. The nominations are open now and close at the end of the month on July 31st. The show has been nominated four years, including our win last year. This is a people’s choice award which means it’s all about the listener's favorite podcasts. To win we are going to need every single listener to go nominate DNA Today in the Science & Medicine Category. If you nominate us and share it on social media, tag us and we will repost it. AND we will give you a shoutout on the podcast/radio show . Thank you to all our listeners who have supported us for years and to all the new listeners who have recently tuned in. We look forward to many more years of genetics podcasting ahead of us! Getting nominated in the Podcast Awards helps us grow and find new sponsors so we can continue bringing you more interviews with leaders in genetics.
Fri, July 16, 2021
#152: Janice Berliner on Brooke’s Promise
It’s time to defend our title as the Best 2020 Science and Medicine Podcast! The Podcast Awards Nominations are open! So we need you listeners to get DNA Today nominated at podcastawards.com . We were against very popular podcasts last year, and because of your support we won. To win again, we need all of you to nominate DNA Today in the Science & Medicine category at podcastawards.com by July 31st. If you share your nomination on social media and tag us, we will repost it and give you a shoutout on show! Thank you so much for all your support, let’s win this together! Joining our host, Kira Dineen, this week is Janice L. Berliner. She is the Director of the Master of Science in Genetic Counseling Program at Bay Path University and the Author of Brooke's Promise , a novel that follows a family through their journey and struggles as their love is pushed to the test while learning to live with their daughter’s disease. Janice has been a genetic counselor for more than 29 years, having earned her MS in Human Genetics/Genetic Counseling from the University of Michigan becoming board-certified in 1993. She has served on the boards of directors of the National Society of Genetic Counselors (NSGC) and the American Board of Genetic Counseling (ABGC), and chaired the 2008 NSGC Annual Education Conference. She has also had the opportunity to be part of the hands-on training of a sizable number of genetic counseling graduate students, has served as the Editor-in-Chief of the NSGC quarterly newsletter, on the editorial board of the Journal of Genetic Counseling, and several committees of the NSGC and AGCPD (Association of Genetic Counseling Program Directors). Her second genetics novel is in the works. Did you know there is a genetic counselor that specializes in offering care to those in the adoptee community? Brianne Kirkpatrick co-wrote “ The DNA Guide for Adoptees ” to provide a resource for those in the adoptee community who are utilizing DNA testing to find biological relatives or to seek out medical information. She also started Watershed DNA to offer personalized genetic counseling to directly support people in the af
Fri, July 02, 2021
#151: Richard Michelmore and Brad Pollock on COVID-19 Variants
COVID-19 variant genotyping is explored with the Director of the UC Davis Genome Center and Healthy Davis Together project.
Fri, June 18, 2021
#150 Euan Ashley and Stephen Quake on The Genome Odyssey
This marks the 150th episode of DNA Today! Our guests to celebrate this landmark episode of DNA Today are Dr. Euan Ashley, a medical geneticist and cardiologist. And Dr. Stephen Quake, a physics professor, bioengineer and pioneer in microfluidics. A Scotland native, Dr. Euan Ashley graduated with degrees in Physiology and Medicine from the University of Glasgow. He completed medical residency and a PhD in molecular physiology at the University of Oxford before moving to Stanford University where he trained in cardiology and advanced heart failure, joining the faculty in 2006. In 2010, he led the team that carried out the first clinical interpretation of a human genome. The paper published in the Lancet was the focus of over 300 news stories, and became one of the most cited articles in clinical medicine that year. The team extended the approach in 2011 to a family of four and now routinely applies genome sequencing to the diagnosis of patients at Stanford hospital where Dr. Ashley directs the Clinical Genome Service and the Center for Inherited Cardiovascular Disease. In 2014, Dr Ashley became co-chair of the steering committee of the NIH Undiagnosed Diseases Network. Stephen Quake is a professor of bioengineering and applied physics at Stanford University and is co-President of the Chan Zuckerberg Biohub. He holds a B.S. in Physics and M.S. in Mathematics from Stanford University and a doctorate in Theoretical Physics from the University of Oxford. Dr. Quake has invented many measurement tools for biology, including new DNA sequencing technologies that have enabled rapid analysis of the human genome and microfluidic automation that allows scientists to efficiently isolate individual cells and decipher their genetic code. Dr. Quake is also well known for inventing new diagnostic tools, including the first non-invasive prenatal test for Down syndrome and other aneuploidies. His test is rapidly replacing risky invasive approaches such as amniocentesis, and millions of women each year now benefit from this approach. He was also the fifth person in the world to have their genome sequences and his genome was the subject of clinical annotation by a large team at Stanford Hospital led by Dr. Ashley. On This Episode We Discuss: The first clinical interpretation of a human genome Genome sequencing technologies The cost of sequencing a genome Understanding the genomic code <p class="" style="white-space:pre-wr
Fri, June 04, 2021
#149 CF Series: Gunnar Esiason on Patient Advocacy
Sponsoring this cystic fibrosis series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. On the third and final episode of our cystic fibrosis podcast series, our host Kira Dineen is joined by Gunnar Esiason who shares about his experience as a patient with CF. Gunnar is a cystic fibrosis and rare disease patient leader, who is passionate about early stage drug development, patient empowerment and health policy. He is a second-year MBA student at the Tuck School of Business at Dartmouth. He is also working towards a Master of Public Health degree at the Dartmouth Institute for Health Policy and Clinical Practice. His first year course work included a First-Year Project with a health insurance start-up. Prior to Tuck, Gunnar received a BA form Boston College in 2013, worked on an enteral feeding product at a medical nutrition company, and was appointed to the board of directors at the Boomer Esiason Foundation. Gunnar maintains the roles of patient advocate and director of patient outreach at the Boomer Esiason Foundation, named after his NFL quarterback father. He has consulted on clinical trial development, a real world evidence population health study, and a cystic fibrosis-specific mental health and wellness screening tool. On This Episode We Discuss: Gunnar’s diagnosis and journey with CF The anatomy of a CF care team CF awareness and treatments around the world Balancing CF with school, work, and relationships How COVID-19 had affected CF patients Connecting and interacting with people in the CF community You can learn more about Gunnar and his story on his website and check out <a href="https://www.si.com/nfl/2014/10/08/gunnar-esiason-cystic-fibrosi
Fri, May 21, 2021
#148 CF Series: Shuling Guo on Pharmaceuticals
Get a shoutout on the podcast by nominating DNA Today for the Quill Podcast Awards for the “Best Health Podcast”. Share your nomination on social media and tag us. In return, we will thank you personally on the show, you can also comment on our posts on Twitter , Facebook , LinkedIn and Instagram . Nominate in this form ! Sponsoring this series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY”for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. To continue our cystic fibrosis podcast series, Dr. Shuling Guo joins our host Kira Dineen, to discuss drug discovery efforts in cystic fibrosis. She is the VP of Antisense Drug Discovery at Ionis Pharmaceuticals – the leader in RNA-targeted drug discovery and development. Shuling is an Ionis veteran of over a dozen years (first and only industry job). Shuling received her Ph.D. in Molecular Cancer Biology from Duke University and had her postdoctoral training at HHMI/UCLA. At Ionis, Dr. Guo oversees drug discovery efforts in hematological, metabolic, ocular, pulmonary and renal disease areas as well as research efforts in noncoding RNA field; managing activities from target identification and target validation to the selection of human development candidate. In addition, she is involved in clinical development of antisense therapies. Her achievements include leading the research efforts for transthyretin (familial amyloid polyneuropathy, completed phase 3 clinical trial & under NDA), TMPRSS6 (beta-thalassemia and hereditary hemochromatosis, phase 1 clinical trial), and ENaC (cystic f
Fri, May 07, 2021
#147 CF Series: Bijal Trivedi on Breath From Salt
This episode launches DNA Today’s Cystic Fibrosis Podcast Series! Over the next three episodes of the podcast we will be exploring cystic fibrosis’ history, patient experience and ongoing drug development. Sponsoring this series is Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids such as cystic fibrosis. Unlike other companies, this is a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. To kick off this series our host Kira Dineen is joined by Bijal P. Trivedi , an award-winning journalist specializing in longform narrative features about biology, medicine, and health. She is the Senior Science Editor at National Geographic. Trivedi has just completed her first book, Breath from Salt: A Deadly Genetic Disease, a New Era in Science, and the Patients and Families Who Changed Medicine Forever. Bill Gates reviewed Breath from Salt on his blog and recommended it as one of the top five books for 2020. The book was also on the Longlist for the 2021 PEN/E.O. Wilson Literary Science Writing Award. Trivedi’s writing has been featured in The Best American Science and Nature Writing 2012, National Geographic, Scientific American, Wired, Science, Nature, The Economist, Discover, and New Scientist. Her work has taken her from the Mexico-Guatemala border where she covered the use of genetically modified mosquitoes for fighting the dengue virus to the behind the scenes at Massachusetts General Hospital where she watched trauma surgeons test hypothermia to save pigs with life-threatening injuries to Moscow’s Star City where she blasted off with space tourism entrepreneurs on the “Vomit Comet” for astronaut training. She also edited the NIH Director’s Blog and, prior to that, helped launch the National Geographic News Service in partnership with the New York Times Syndicate, which she wrote for and edited. Her undergraduate fascination with biochemistry and molecular biology at Oberlin College compelled her to pursue a master’s degree in molecular/ cell/developmental biology at UCLA. Her love of writing drew her to journalism rather than to a lab bench—and to a second
Fri, April 16, 2021
#146 Jo Bhakdi on Whole Exome Sequencing
DNA Day and Match Day (for genetic counseling grad programs) are only one week away! To celebrate we have two exciting announcements. Announcement #1 Our host Kira Dineen will be live on Instagram with Dena DNA on Saturday April 24th, 2021 at 12pmPT/3pmET to celebrate both genetic holidays. Come with your genetics questions including genetic counseling graduate school questions! Head over to our Instagram for more info (@DNAradio), and maybe a giveaway… Announcement #2 We teamed up with Jackson Laboratories and Million Women Mentors CT to create a resource guide to help students and teachers learn about the importance of genetics in our everyday lives. The guide includes genetics lessons with worksheets to help engage students in genetics. It will be available on Monday April 19th (at DNApodcast.com under the “Resources” tab) in anticipation for DNA Today on April 25th. Join our celebrations on social media using #CTDNADay! DNA Day Podcast Recommendation: Stream Episode 46 of DNA Today that celebrates DNA Day including the history of the day, activities, and careers in genetics. Our guest on this episode is Jo Bhakdi, the founder and CEO of Quantgene. His work in machine learning, sequencing technology, and DNA extraction procedures defines the cutting edge of genomic diagnostics, early disease detection, and precision medicine. Prior to Quantgene, Jo founded i2X, an investment framework that composes low-risk Venture Capital portfolios across large numbers of technology startups. The i2X platform laid important foundations for advanced analytics in both financial and biotechnology applications, such as the Quantgene machine learning platform. Bhakdi holds a Masters in Economics and Psychology from Tubingen University, one of Germany’s leading academic institutions, with a focus on financial theory and statistics. He kicked off his career at WPP and Omnicom, where he held Strategy and Executive Director positions. On This Episode We Discuss: Overview of whole exome sequencing (WES) Technology for WES Whole exome sequencing (WES) vs whole genome sequencing (WGS) vs gene panels When to order WES Disorders diagnos
Fri, April 02, 2021
#145 Greenwood Genetic Center on Epigenetics
Greenwood Genetics Center’s Ray Louie and Kellie Walden join the show to discuss epigenetics. Dr. Ray Louie is an Assistant Director in Greenwood’s Molecular Diagnostic Laboratory. His background is in large scale genetic screening in model organisms and in solid tumor genetics and radiobiology. Dr. Louie is interested in the diagnosis of Mendelian disorders and in the identification of novel genes involved in neurodevelopmental delay and hydrops fetalis. Kellie Walden is Greenwood’s Director of Diagnostic Development and a genetic counselor by training. She oversees areas of growth for the labs including new test offerings and industry contracts. She also continues to be involved in marketing activities for the Diagnostic Lab. Kellie is a member of the National Society of Genetic Counselors. EpiSign is the first clinical assay validated to detect unique epigenetic signatures and methylation abnormalities for recognized genetic conditions. Right now, EpiSign tests for over 40 conditions that have signatures. Version 3 will be launching in the spring with even more conditions! This test was developed by London Health Sciences Centre in Ontario, and our lab at the Greenwood Genetic Center performs the bench work and the data is analyzed by the team in Canada. The National Human Genome Research Institute named EpiSign one of the 10 most significant advances in genomic medicine in 2019! On This Episode We Discuss: Defining epigenetics Epigenetic disorders (Prader–Willi, Angelman, Beckwith-Wiedemann syndrome) Testing for epigenetic conditions through EpiSign Indications to order epigenetic testing Variant of Uncertain Significance (VUS) clarification with EpiSign Current research on epigenetic conditions New versions of EpiSign Calculating biological age with epigenetics Learn more about Greenwood Genetic Center’s EpiSign here . You can also check out their incredibly popular genetic counseling visual aids . <p clas
Fri, March 26, 2021
#144 Orion Buske on Genomic Digital Tools
This episode of DNA Today continues our mini series about telehealth in genetics. Last episode we heard from the founder of Advanced Tele-Genetic Counseling, Elizabeth Turner, who shared her expertise in telehealth. Her company provides a scalable telehealth platform for genetic counseling services, where genetic counselors can help patients navigate through areas of genetics like genetic testing, and ultimately understand their own genetics. So if you want to know more about adding the expertise of AT-GC’s certified genetic counselors to help support your own practice, reach out through their website at at-gc.com, again that’s at-gc.com. In part two of our telehealth series, Orion Buske, PhD, joins host Kira Dineen to discuss genomic digital tools. Dr. Buske strives to empower patients, doctors, and researchers through new tools and technologies. He holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking. At various times, he led the technical developments of: PhenomeCentral , the Matchmaker Exchange , PatientKind , and RareConnect . On This Episode We Discuss: Inspiration to start PhenoTips Genomic Health Records Benefits of Digital Tools for patients and providers Digital vs paper pedigrees Auto pedigree builder Speeding up the diagnostic odyssey Future of genomic digital tools Hear more from PhenoTips and our host Kira Dineen through the PhenoTips Speaker Series . This a monthly live webinar where Kira interviews genetic experts about topics and skills specifically for genetic healthcare providers. All previous installments have been recorded and are available on demand here . Stay tuned for the next new episode of DNA Today on April 2nd! We will be joined by Greenwood Genetic Center to discuss epigenetics including their unique genetic test, EpiSign. Don’t miss their bluetooth, noise ca
Fri, March 19, 2021
#143 Elizabeth Turner on Telehealth Genetic Counseling
To kick off our mini series in telehealth genetics fellow genetic counselor, Elizabeth Turner joins our host Kira Dineen. Elizabeth is the cofounder and Chief Executive Officer of Advanced Tele-Genetic Counseling (AT-GC) . Elizabeth’s team, one of the first tele-genetic companies to enter the industry, provides comprehensive genetic counseling services via telemedicine. Elizabeth has practiced in the areas of oncology, pediatrics, reproductive health, and general genetics, and holds a current certification from the American Board of Genetic Counseling. Did you know most people are visual learners? That’s why visual aids are critical during genetic counseling appointments. As we explore in this show, genetic concepts can be really complex to understand, which is why the Greenwood Genetic Center created genetic counseling aids. And now their 7th edition is available , including an app for iPads. In telehealth appointments it can be incredibly helpful to share your screen with these visual aids from Greenwood, so download this vital tool for your daily practice here ! We receive a lot of emails from listeners interested in genetic careers and we love connecting and providing resources. One of those is Keck Graduate Institute’s genetics programs in Southern California. KGI offers a master’s degree in genetic counseling, and a first-of-its-kind graduate program in genomic data analytics. This two-year master’s program gives students the opportunity to work side-by-side with applied life scientists and future genetic counselors while gaining hands-on experience with the technologies and information that are revolutionizing the future of medicine. Learn more about KGI’s programs by visiting kgi.edu/dnatoday . On This Episode We Discuss: Motivation to start AT-GC Initial hurdles to telehealth COVID-19’s impact on telehealth Telehealth affecting disparities in genetics Languages AT-GC offer for sessions Specialties in genetic counseling AT-GC provides Scenarios where telehealth is preferable to in person Coordinating samples
Fri, March 05, 2021
#142 Barbara Fortini on Genomic Data Analytics
Dr. Barbara Fortini joins our host Kira Dineen, to discuss the growing career opportunities in Genomic Data Analytics. She is the Program Director for the Master of Science in Human Genetics and Genomic Data Analytics program at the Keck Graduate Institute. She also teaches their genetic counseling students. Her research interests focus on colorectal cancer, the third most common cancer in the US. Genome-wide association studies have now identified dozens of common genomic variants linked to small increases in colorectal cancer risk. Her research group seeks to identify the functional variants responsible for the increased cancer risk at GWAS-identified loci and to understand the role of these variants in cancer etiology. Previous work has shown that many functional variants lie in gene enhancer elements, leading to allele-specific gene expression of both known cancer-associated genes and novel genes. By comprehensively characterizing risk loci, her team hopes to identify additional novel genes involved in colorectal cancer and better understand the role of enhancers in gene expression in healthy and cancer cells. On This Episode We Discuss: Career paths in genetics outside of genetic counseling Defining big data in a genetic context Area of research impacted by data analytics Career opportunities in the healthcare industry Challenges in labs and pharma companies addressed by genomic data analytics Genome wide association studies (GWAS) Colorectal cancer research via GWAS Genomic data analytics vs bioinformatics master’s degrees In-demand skills for data analysts Pre-requisites to apply to master’s programs, epscally KGI Advice for students applying to programs Content and skills taught in the data analytics program Employers of alumni of the data analytics program Check out the article we mention in the episode about
Fri, February 19, 2021
#141 Stan Crooke on Ultra Rare Disease Drugs
Biotech titan Dr. Stan Crooke joins host Kira Dineen to celebrate rare disease month! Dr. Crooke was the Founder of IONIS Pharmaceuticals, with extensive experience in the pharmaceutical industry developing more than 20 marketed drugs. He has published nearly 500 scientific publications, edited more than 20 books, and has numerous patents. Dr. Stan Crooke is now the Founder and CEO of n-Lorem Foundation, a new San Diego-based organization with an incredible mission of developing individualized RNA targeted medicines for patients with ultra-rare diseases, and providing those treatments for free, for life. These patients have extremely unique mutations and are often only one of 30 people in the entire world to have the disease. After only one year as a foundation, they’ve already made great progress for the ultra rare community, having received 50 applications from patients with ultra rare genetic mutations. Out of those 50, they have greenlighted treatment plans for nearly 20 patients - greatly exceeding application and acceptance rate expectations. On This Episode We Discuss: Rare diseases vs ultra rare diseases Challenges treating patients with ultra rare diseases and genetic mutations Standard process and cost of drug development n-Lorem’s new approach to drug development for ultra rare diseases Antisense therapies (ASOs) n-Lorem’s charitable and scalable model n-Lorem’s relationship with IONIS Pharmaceuticals People eligible for n-Lorem’s treatments How to contact n-Lorem’s for potential treatment Drugs currently in development at n-Lorem Insight on the development of SPINRAZA® for spinal muscular atrophy Learn more about n-Lorem on their website . Check out the UConn Podcast Symposium, our host Kira Dineen will be on the interdisciplinary panel taking place on February 22nd at 4PM EST. You can register to attend for free here . UConn students will be provided a Zoom link to enga
Fri, February 05, 2021
#140 Patti Hall on Gigantism
To kick off rare disease month, author Patti M. Hall joins host Kira Dineen to discuss her memoir Loving Large which chronicles her son’s rare disease diagnostic odyssey. Her life was pitched into an abyss of uncertainty when a golf ball–sized tumour was discovered in her teenage son’s head and he was diagnosed with gigantism, a disease of both legend and stigma. After scrambling to access a handful of medical experts in the field, Patti learned that her son could grow uncontrollably, his mobility could be permanently limited, and his life could be cut short without timely and aggressive treatment. Patti’s attention shifted fully to her son, away from her relationships as well as her own career and health. Her new normal sees her step into a dozen additional roles, including nurse, researcher, advocate, risk assessor, and promise maker, while she struggles and fails to rebuild her life as a recently divorced woman. When the unthinkable strikes, parents Love LARGE. Now, Patti serves as an advocate for the rare disease community by serving as a member of the Board of Directors for AcromegalyCanada. Enter our giveaway here to win your own copy of Loving Large! For additional entries head over to our Instagram post. This episode is brought to you by Picture Genetics, a unique DNA testing service, with tests designed for every stage of life -- including family planning. With a Picture Parenting carrier test, you can uncover genetic conditions that may be passed on to your kids (such as cystic fibrosis or fragile X syndrome). Unlike other companies, this is actually a clinical grade test where physicians and genetic counselors are involved. It’s easy to order and understand with good looking reports! To order your Picture Genetics test, go to picturegenetics.com and use code “DNATODAY” for 25% off and free-shipping! Get actionable genetic insights today to benefit your family of tomorrow. On This Episode We Discuss: Diagnostic Odyssey “From sore knees to a brain tumor” Symptoms of gigantism Gigantism vs Acromegaly Joining the rare disease community Mother son relationship through diagnosis and treatments Filtering medical in
Fri, January 15, 2021
#139 Dani Shapiro on her Donor Conceived Discovery
Enter the our “Inheritance” book giveaway on our Instagram , Twitter , and Facebook . Author Dani Shapiro joins host Kira Dineen to discuss her instant New York Times best selling memoir, Inheritance, which is being adapted into a film. Her other books include the memoirs Hourglass, Still Writing, Devotion, and Slow Motion, and five novels including Black & White and Family History. She teaches writing workshops around the world, including Columbia, New York University, and the Sirenland Writers Conference in Italy. Dani is a fellow podcaster in collaboration with iHeartMedia to host Family Secrets . An Apple Top 10 podcast, the series features stories from guests who—like Dani— have uncovered life-altering and long-hidden secrets from their families’ past. Her show is also being adapted to the screen! She lives with her family in Litchfield County, Connecticut. On This Episode We Discuss: Premise of her memoir Inheritance Understanding DTC (Ancestry/23andMe) test results using GEDmatch First reaction to finding out her father was not her biological father Discussing non paternity with family and friends Tools and methods to track down her biological father Approach to contacting her biological father Egg/sperm donation in the 1960s Altering family health history Advice for those considering DTC testing Don’t forget to enter the book giveaway for a copy of Inheritance! Further details on our Instagram , Twitter , and Facebook</
Fri, January 01, 2021
#138 Genetic Counseling Boards Advice
To kick off 2021, we have a big announcement! All episodes of the show will now be recorded in video as well as audio. You can watch this episode on our YouTube channel here or search “DNA Today Podcast”. In this episode three genetic counselors share their experience and advice taking the American Genetic Counseling Board exam. Boards Topics Discussed: Structuring material with a study plan Areas to focus on including Prenatal, Metabolic, Cancer, Neuro, Cardiac, Quant, and Psych Taking the exam in February vs August Studying while working vs before working Boards Course overall, price, and CEUs Resources including “A Guide to Genetic Counseling”, NSGC Practice Guidelines, Top 100 Genetic Diseases, and more Study groups including social media ( Feb Boards 2021 ) Study Tips When studying the inheritance pattern, think which are on carrier screening to figure out if it’s autosomal recessive Look for the unique findings for less common conditions Look at difference between types of conditions or similar conditions Insight on practice exam Perspective on retaking the exam (You are not alone!) The Panel Ally Abbott is an American Board certified Pediatric Genetic Counselor at Phoenix Children’s Hospital. She earned her Bachelor of Arts in Psychology and a minor in Biology from Loyola Marymount University in Los
Fri, December 18, 2020
#137 Nina Harkavy and Lorraine Way on Medical Interpretation
This episode we are exploring medical interpreting in genetic counseling and other areas of healthcare. Joining me are Genetic Counselor Nina Harkavy and Interpreter Lorraine Way. Nina is a prenatal genetic counselor at Columbia University. She graduated from the John Hopkins University/ NHGRI genetic counseling training program. Lorraine is a Spanish Instructor, medical interpreter and the President of Language Way, a language service company. She has a master’s in French from Middlebury College where she also studied Spanish. On This Episode We Discuss: Improved counseling experience speaking in Spanish Difference between translation and interpretation How healthcare providers can alter their communication with non-native English speakers Tips for working with interpreters Standard for interpretation especially with family members Maintaining cultural sensitivity when belief systems may impede the decision-making process Concepts that are challenging to interpret into Spanish and ways to phrase differently Approaches to check in with patients about their understanding Miscommunications between healthcare providers and interpreters Handling an interpreter who is not accurately interpreting Training to be a professional interpreter Qualities to look for when hiring an interpreter Learn more about Lorraine way business through her website, thelanguageway.com Imagine a health record system that’s actually designed for genomics, available in 6 different languages, and complete with pedigree drawing, diagnostic insights and more. Well stop imagining and start using, because PhenoTips is nothing like your EHR, it’s the world’s first Genomic Health record system that captures family history seamlessly, regardless of the language patients are comfortable with. Because clear communication is the root of supportive care. Visit phenotips.com to learn more. Check out our sponsor at PhenoTips.com to learn more. <p class="" sty
Fri, December 04, 2020
#136 Linda Robinson on the History of Genetic Counseling
Our profession has evolved over the last 50 years from a small dedicated group of genetic counselors to over 5,000 individuals in the United States, with sister organizations in Canada, Europe and Australia. Just as the field of genetics has evolved over the last 40 years, so has the National Society of Genetic Counselors (NSGC) and genetic counselors. In this podcast episode, Linda Robinson joins host Kira Dineen to highlight what hot topics, historical accomplishments, challenges, barriers and opportunities during the last 50 years of genetic counseling. Linda Robinson is a retired genetic counselor. She worked primarily prenatal and cancer roles at UCLA , University of Texas Southwestern Medical Center and the California Department of Health. Linda retired as the Assistant Director of Cancer Genetics at The University of Texas Southwestern Medical Center and is currently a consultant grant writer there. She has a long list of publications, grants and awards. Linda has been a very active member of the National Society of Genetic Counselors (NSGC) on countless committees, currently she is in the Late Career SIG. On This Episode We Discuss: Importance of Genetic Counseling History Roots of Genetic Counseling at Sarah Lawrence in 1969 Need for the Profession Coining Term “Genetic Counselor” and Runner Up Titles The First Genetic Counseling Jobs, Speciality and Tests National Society of Genetic Counselors (NSGC) Foundation Evolution in Last 50 Years: Challenges, Technology Advancements, Licensure etc. NSGC Online Timeline Current Number of Genetic Counselors and Programs Future of Genetic Counseling Don’t forget to check out NSGC’s interactive timeline here ! Stay tuned for the last DNA Today of the year on December 25th, 2020. New episodes are released on the first and third Friday of the month. In the meantime, you can listen to over 130 other episodes on <a href="https://itunes.apple.com/us/podcast/dna-today-a-genetics-
Tue, November 24, 2020
#135 NSGC 2020 Recap
The National Society of Genetic Counselors (NSGC) hosted its annual conference virtually this past weekend with a new record for attendance. In this special extended installment of DNA Today we are recapping and reflecting on a few sessions from the conference. Thanks to our sponsor for this episode, PhenoTips. Imagine a health record system designed specifically for genomics. Cause let’s be honest, electronic health records are not built for genetics. Now you can stop imagining and start using, because PhenoTips is just this! PhenoTips is the world’s first complete Genomic Health record system with pedigree drawing, standardized symptom capture, diagnostic insights and more, all in one place. Check them out at PhenoTips.com . Timestamps Aishwarya Arjunan 1:30-24:20 Rebekah Hutchins 25:17-38:50 Courtney Studwell 38:50-53:05 Ashlyn Enokian 53:05-56:05 Presentations Recapped/Recommended Drawing the line with ECS: When does expanded carrier screening turn into excessive carrier screening? Live Tweet Threads by DNA Today and Aishwarya Arjunan More Than Just Raising Our Voices: Confronting Injustices in Patient Care Beyond common aneuploidies: Expanding existing chromosome testing technologies and subsequent prenatal care Live Tweet Thread by DNA Today Transfer of Mosaic Embryos following PGT-A: Updates, Ethics, and Implications Live Tweets by DNA Today ( 1 , 2 , 3 , 4 , <a href="htt
Fri, November 06, 2020
#134 Dr. Kat Arney on Cancer Evolution
Please keep our 2020 Best Science and Medicine Podcast Award momentum going and vote for “DNA Today” for Podcast Magazine’s “Hot 50” Podcasts! You can take 60 seconds to vote here now . Dr. Kat Arney is our guest in this episode of DNA Today. She is a fellow genetics podcaster! She is an award-winning science writer, author, presenter, broadcaster, and public speaker. Her voice will probably be familiar to you as she has appeared on radio and TV around the world including BBC Radio 4, the Naked Scientists and Naked Genetics podcasts, and more recently as the host of the Genetics Unzipped podcast. She has written for outlets including the Times Educational Supplement, BBC Science Focus, the Daily Mail, Wired, BBC Online, The Guardian, and New Scientist. Dr. Arney has authored three popular science books: “Herding Hemingway’s Cats: Understanding How Our Genes Work”, “How to Code a Human” and her new book, “Rebel Cell: Cancer, Evolution, and the New Science of Life's Oldest Betrayal”. Enter our giveaway to win a copy of the book on our Twitter , Instagram , and Facebook . On This Episode We Discuss: Cancer from an evolutionary lens Evolutionary origins of cancer at the start of multicellular life Cancer identified through DNA from fossilized skeletons Cancer in other species, species without cancer Correlations between cancer development and species relationship Conservation of cancer genes Peter Nowell’s 40 year old paper, “The Clonal Evolution of Tumor Cell Populations” Definition of a cancerous cell EV-001 reveals the complexity of cancer development Overestimate of of cancer after the development of Gleevec Cancer evolutionary perspective adding in precision medicine Search “ Genetics Unzipped ” in your podcast player to hear Dr. Arney’s show. This is a crossover episode as our host Kira Dineen, was also a guest on Genetics Unzipped in September, where she was interviewed about prenatal genetic counseling. Check out the episode titled, “ Podcast Rare Genetic Disorder and Pregnancy—Navigating an ’Emotionally Challenging’ Journey. ” Learn more about the book at
Fri, October 16, 2020
#133 DTC Series: Melanie Hardy on Carrier Screening
This episode is the last installment of our 7 part direct-consumer genetic testing series. Joining for this episode is guest Melanie Hardy, Assistant Director of JScreen Genetic Counseling Services, which is part of Emory University School of Medicine. Melanie has been an active member in The National Society of Genetic Counselors and the American Board of Genetic Counseling, including chairing multiple committees, workgroups and programs. She has also served on capstone committees for genetic counseling students at multiple universities. On This Episode We Discuss: Number of conditions on carrier screening Different methods of carrier screening Conditions more common in people of Ashkenazi Jewish descent Conditions where carriers can have symptoms Limitations of carrier screening Conditions identified on newborn screening Potential differences between saliva and blood sample If carrier screening should be repeated Genetic counseling session about carrier results Reproductive options for carriers During this COVID-19 pandemic many patients and healthcare providers have turned to telehealth services. One of the first genetic counseling companies in this space was Advanced Tele-Genetic Counseling in 2016. AT-GC was conceptualized and grown by genetic counselors so that patients like you could access a genetic counselor no matter where you live. Their services are more important than ever to reduce your exposure during the pandemic. Learn more and book your appointment today with a board certified genetic counselor at AT-GC.com . Learn more about JScreen on their website, JScreen.org . Stay tuned for the next new episode of DNA Today on November 6th, 2020! New episodes are released on the first and third Friday of the month. In the meantime, you can binge over 130 other episodes on Apple Podcasts , Spotify , streaming on the website , or any other podcast player by searching, “DNA Today”. See what else we are up to on Twitter , Instagram , Facebook , YouTube and our website, <a href="http://dnap
Fri, October 02, 2020
#132 DTC Series: Michael Schall-Levin on Single Cell Sequencing
Exciting Announcement: This week “DNA Today” won the Best 2020 Science and Medicine Podcast in The 15th Annual Podcast Awards ! This is thanks to each and every listener who nominated and voted for the show. THANK YOU for being such loyal listeners for the past 8 years. We’ve been nominated for four years, and it’s incredible to win this year! For those that aren’t familiar, The Podcast Awards are the longest running podcast awards event open to shows worldwide, this year there was 250,000 people who nominated shows. Michael Schnall-Levin joins host Kira Dineen on this episode to explore genetic testing technology including next-gen sequencing, single cell sequencing and bioinformatics. This episode is part 6 of our ongoing direct-consumer genetic testing series, check out our previous episodes for other deep dives into DTC topics. Michael is the Senior Vice President President of Product, Research and Development and Founding Scientist at 10x Genomics. Before joining 10x Genomics, Michael was an NSF postdoctoral fellow with Eric Lander at the Broad Institute where he worked on developing novel applications of DNA sequencing technologies. Prior to that, Michael worked at Foundation Medicine, where he developed some of the early algorithms to accurately detect mutations in patient tumor samples. Michael earned his PhD in Mathematics from MIT with Bonnie Berger, where he was both a Hertz fellow and NDSEG fellow, and his BA in Physics from Harvard College. On This Episode We Discuss: Steps to Sequence DNA/RNA Sanger and Next Gen Sequencing Single Cell Sequencing Process, Accuracy, Advantages Ultiziting in Cancer, Immunotherapy Bioinformatics Future of Genetic Testing Learn more about 10X Genomics on their website , Twitter and Facebook . Picture Genetics is our sponsor for this DTC genetic testing series and offers a unique DNA testing service. These tests are designed for every stage of life, from family planning and newborn health, to personal wellness and disease risk. Unlike other companies, this is actually a clinical grade test where physicians and genetic counselors are involved. The test sequences entire genes that are medically actionable. It’s easy to order and understand with good looking reports! To order your Picture Genetics go to picturegenetics.com and use code “ DNATODAY ” for
Fri, September 18, 2020
#131 DTC Series: Libby Copeland on Law Enforcement’s Use of Genetic Databases
This episode is part of our ongoing direct-consumer genetic testing series. Joining the show is an award-winning journalist, Libby Copeland. Copeland, who writes about culture, science and human behavior, is the author of a new book, “The Lost Family: How DNA Testing is Upending Who We Are,” which explores the personal, familial and ethical implications of recreational DNA testing. Copeland was a reporter and editor at The Washington Post for eleven years, has been a media fellow and guest lecturer, and has made numerous appearances on television and radio. Enter our giveaway to win a copy of Libby Copeland’s book, “The Lost Family” on our Twitter , Instagram , and Facebook . Also be sure to enter our mentor session giveaway with our host Kira Dineen who will be meet with the winner in an hour zoom call to discuss applying to genetic counseling schools including essays and resumes. On This Episode We Discuss: DTCs Topics explored in “The Lost Family” Approach and implications of Yaniv Erlich’s 2013 groundbreaking study identifying “anonymous” male DNA donation to research Ancestry information revealed through the Y chromosome Companies that offer Y and mitochondrial DNA testing Previous genetic database techniques to catch criminals Databases and techniques used to catch the Golden State Killer How CODIS works for law enforcement Companies with the largest databases Changes to GEDmatches policy after catching the Golden State Killer Law/protections to prevent law enforcement from using genetic genealogical databases The relationship between FamilyTreeDNA and the FBI Status of DTC genetic testing companies opt in/out policies The amount of the American American population that could be identified from the DTC databases Picture Genetics is our sponsor for this DTC genetic testing series and offers a unique DNA testing service. These tests are designed for every stage of life, from family planning and newborn health, to personal wellness and disease risk. Unlike other companies, this is actually a clinical grade test where physicians and genetic counselors are involved. The test sequences entire genes that are medically actionable. It’s easy to order and understand with good looking reports! To order your Picture Genetics go to picturegenetics.com and use code “ DNATODAY ” for
Fri, September 04, 2020
#130 DTC Series: Anne Greb on 23andMe
As part of this episode, 23andMe giving away a free DNA kit! To enter, go to DNA Today’s Twitter / Facebook (@DNApodcast) and Instagram (@DNAradio) and look for the post of a picture of a 23andMe kit with the simple instructions to enter. Don’t miss your chance to win this free DNA kit! Anne Greb, MS, CGC joins the show to share her expertise on direct-to-consumer genetic testing as part of our ongoing series on DNA Today . She is a genetic counselor and serves as lead of the medical education team at 23andMe. In this role, she is responsible for developing educational initiatives that equip healthcare professionals to better integrate personalized genetic information into the everyday care of their patients. Previously Anne was the program director of 3 genetic counseling programs, Wayne State University, Long Island University and Sarah Lawrence College. She also directed the medical genetics course taken by first year medical students at Wayne State University. On This Episode We Discuss: Consumers’ motivations to pursue direct-to-consumer (DTC) genetic testing Potential integration of DTCs into routine medical care Accuracy of DTCs ( Ambry Paper ) BRCA testing of 3 variants Recommendations on Utilizing Results Educating Consumers on Result Implications Advice for Genetic Counselors with Patients Presenting DTCs Extra Information from Raw Data 23andMe Research Protection of Consumers’ Data Future of 23andMe Are you looking for COVID-19 testing? Our sponsor of this DTC genetic testing series is Picture Genetics, who is now offering FDA-authorized test kits. And you don’t have to leave the house, the kits are shipped directly to your home. Ordering takes only a few minutes by answering some questions about any exposures or symptoms you may have had. You can order your kit directly at picturegenetics.com . For more information about 23andMe you can check out their website , follow on Twitter , and like on Facebook / Instagram . Healthcare providers can also visit <a href="https://medical.23andme.com
Fri, August 21, 2020
#129 DTC Series: Picture Genetics on At-Home, Physician-Mediated, Genetic Testing
Picture Genetics Kit Giveaway! Enter to win your own free kit on our Twitter , Instagram , and Facebook . Guests for this episode are from Fulgent Genetics (offering Picture Genetic kits), which is the sponsor of this new Direct To Consumer Genetic Testing Series. Jessica Shiles is a genetic counselor and Dr. Samuel Strom is the lab director. Jessica serves as Fulgent’s Clinical Genetics Marketing Specialist. Her main role is to provide clinical training and expertise to help develop marketing material that is used to educate, support, and inform the patients and providers Fulgent serves. With Jessica’s strong passion for patient advocacy, she also leads Fulgent’s community outreach. She is a fellow Sarah Lawrence College’s alumni where she received her Masters of Science in Human Genetics. Previously Dr. Strom was an assistant professor at the UCLA David Geffen School of Medicine where he pioneered interpreting genomics results in the context of clinical diagnostic testing for rare inherited diseases and cancer. At Fulgent, he is continuing to forward this new science at an industrial scale. He is also an accomplished researcher in the fields of neurogenetics, ophthalmic genetics, and molecular diagnostics, with publications in top journals such as Science, JAMA, Genetics in Medicine, and Human Molecular Genetics. On This Episode We Discuss: Overview of Picture Genetics’ approach to DTCs (including genetic counseling) Difference between DTC genotyping and sequencing Conditions on carrier screening ( Picture Parenting ) Ideal time for carrier screening Newborn testing for healthy vs sick babies Newborn testing vs newborn screening Conditions on newborn testing ( Picture Newborn ) Value of newborn testing after negative carrier screening ACMG59 qualification of conditions ( Picture Wellness ) Purpose of ordering testing on the ACMG59 genes COVID-19 DTC testing , including FDA approval There is one correction during the episode, Jessica mentioned ACMG when she meant to say ACOG. As a DNA Today listener you can order your kits with code “DNATODAY” for a 25% discount and free shipping . Order at picturegenetics.com and the kit will be delivered right to your home! Tha
Fri, August 07, 2020
#128 DTC Series: Adam Rutherford on How To Argue With A Racist
Dr. Adam Rutherford is our guest for this second installment of our Direct-To-Consumer Genetic Testing series. He is a geneticist, author, and broadcaster. Dr. Rutherford has a PhD in Genetics, a degree in evolutionary biology, and is an honorary Research Fellow at UCLA. He was an audio-visual content editor for the journal Nature for a decade, and is a frequent contributor to the newspaper The Guardian. On radio, he is the presenter of BBC Radio 4’s flagship science program, Inside Science, as well as many documentaries. On TV, he has presented multiple BBC series including The Beauty of Anatomy , The Gene Code , and award winners Playing God and The Cell . Dr. Rutherford has also been a scientific advisor to films including Biophilia Live , World War Z , The Secret Service and Ex Machina (2015). He has authored multiple books including, “A Brief History of Everyone Who Ever Lived” and the book we will be discussing today, “How to Argue With a Racist: What Our Genes Do (and Don't) Say About Human Difference” which is being released this August! Enter our giveaway for a copy of his book on our Twitter , Instagram , and Facebook . On This Episode We Discuss: How genetics is woven into the history of race Discrepancy of papertrails and ancestry reports from DTCs between European and non-European descent What DTC companies can do to address this racial disparity How genetics of ethnicity contradict Dawkins’ “tyranny of the discontinuous mind” concept How is it possible to not be genetically related to an ancestor What we can learn by comparing the genomes of African and African-American people How consumer ancestry genetic testing affects how we think about our genetic differences Olympics reveal of the limitation genetic predisposition DTCs contribution to racial reification Sponsoring this episode is Advanced Tele-Genetic Counseling (AT-GC) which provides virtual appointments to meet with a certified genetic counselor. These one-on-one conversations can help you understand how your
Fri, July 17, 2020
#127 DTC Series: Jeanette McCarthy on the Industry
Last chance to nominate DNA Today in the Podcast Awards for the best Science and Medicine. Please take a few minutes to support the show! This episode kicks off our Direct-To-Consumer (DTCs) Genetic Testing Series! Check out our previous episodes about DTCs including episode 116 , 105 , 91 , 80 , and 56 . Over this brand new series, we are going to be interviewing a whole bunch of experts including authors Adam Rutherford and Libby Copeland about their new books exploring DTCs and we get to hear directly from companies like Fulgent Genetics , JScreen , and 23andMe . So much more to come over the next few months! This series is sponsored by Picture Genetics , who is now offering FDA-authorized COVID-19 test kits. And you don’t have to leave the house, the kits are shipped directly to your home. Ordering takes only a few minutes at picturegenetics.com . Use code “DNATODAY” for 25% and free shipping on all other kits! To start off this series, we are joined by Jeanette McCarthy, MPH, PhD, who is a UC Berkeley trained genetic epidemiologist with current faculty positions at UCSF and Duke. Her interests are in educating stakeholders in the area of precision medicine, including healthcare providers and consumers. In 2014, Dr. McCarthy helped launch the first consumer-facing magazine in this field, Genome, where she served as the founding Editor-in-Chief. Dr. McCarthy is also the founder of Precision Medicine Advisors, where she develops and delivers workshops and online courses related to genetic testing. On This Episode We Discuss: Top companies in the DTC genetic testing industry Differences between patient initiated, physician initiated, and/or medical/clinical grade Lesser known areas of testing including pharmacogenomics Role of FDA regulation Learn more from Dr. Je
Fri, July 03, 2020
#126 Adam Buchanan on the ABGC Boards Exam
Answering your listener submitted questions about the American genetic counseling board exam is the ABGC President, Adam Buchanan, MS, MPH, CGC! Aside from this role at American Board of Genetic Counseling, Adam is an associate professor, genetic counselor and Director of the Geisinger Genomic Medicine Institute. Previously, he was a research associate at Duke Cancer Institute. His clinical expertise includes intimate knowledge of recommended risk management for hereditary cancer syndromes. He is co-leading Geisinger’s MyCode genomic screening program for medically actionable genomic results, and is helping to develop a health services research portfolio on patient-participant, family, and system outcomes of this program. This episode is sponsored by PhenoTips. If you are still drawing pedigrees by hand, you are overdue for an upgrade! PhenoTips provides a free digital pedigree drawing tool. Not only is it intuitive and easy-to-use, it’s 2.5 times faster than your pen and paper. And we all know time is very valuable in the clinic. Give it a try at phenotips.com/signup . On This Episode We Discuss: Timeframe for the boards Structure of the exam Study resources Content on the exam Strategy to approach questions Percentage passing rate (Is there one?) Results and CGC status Accommodating for COVID-19 (Possible Remote Test Taking) Inclusivity boards price and questions Update: As teased by Adam in this episode, ABGC officially announce the boards exam is also being offered with remote proctoring in August 2020. Read more on their website here . Learn more on ABGC’s website , here is the content outline that was referred to throughout this interview. Here is the practice exam for purchase ($55) to access your strengths and weaknesses. Here is a page to learn more about the scoring of the exam and here is a page to see specific passing rates over the last few years. During the interview we also reference #ABGCListens tweetchat, which you can read here on Twitter. For other genetic counseling conversation read and participate in <a href="https://twitter.com/hashtag/GCchat?src=h
Thu, July 02, 2020
Nominate DNA Today in Podcast Awards (Sci&Med)
PodcastAwards.com Select “DNA Today: A Genetics Podcast” in the Science & Medicine Category It’s that time of year again, the Podcast Awards Nominations opened today (July 1st, 2020)! So I need YOU listeners to get DNA Today nominated at podcastawards.com in the “Science in Medicine” category. Also don’t forget to check off that you would like to participate in the voting round, we will need your support then as well. The show has been nominated in 2015, 2016, and 2019, so let’s go for a fourth nomination and a win this year! This is a people’s choice award which means it’s all about the listener's favorite podcasts. To win we are going to need every single listener to go nominate DNA Today in the Science & Medicine Category. If you nominate us and share it on social media, tag us and we will repost it. AND we will give you a shoutout on the podcast/radio show . Thank you to all our listeners who have supported us for years and to all the new listeners who have recently tuned in. We look forward to many more years of genetics podcasting ahead of us!
Fri, June 26, 2020
#125 Infertility Series: Nick Charles on Controversies
Podcast Award Nominations begin July 1st, 2020! Please help DNA Today receive a fourth nomination (and hopefully a win this year!) by visiting PodcastAwards.com and selecting “DNA Today” in the Science and Medicine category. We can only receive a nomination if YOU nominate the show! This episode concludes DNA Today’s 7 part infertility series. The first episode kicked off with Lauren Isley who shared about fertility genetic counseling. The next two episodes featured a couple who went through reciprocal IVF to have their daughters ( part 1 and 2 ). Filmmakers of fertility movie ANYA joined the show next . Dr. Kara Goldman followed discussing diagnostic fertility testing. Last episode , Genetic Counselor Jennifer Eccles explained the science behind PGT for polygenic conditions. This seventh and final infertility installment explores controversies surrounding fertility with genetic counselor and genetics podcast host, Nick Charles. He is the lead laboratory and quality control counselor at CooperSurgical, a preimplantation genetic testing lab. Prior to working in a laboratory position, he was a prenatal and reproductive genetic counselor at Rutgers-Robert Wood Johnson Medical School, counseling patients with high-risk pregnancies and/or fertility issues in the Maternal Fetal Medicine practice. He earned his bachelor’s degree in pre-med biology from the University of Scranton and his master’s in human genetics and genetic counseling from Sarah Lawrence College. This episode is also one of our crossovers with another genetics podcast. So be sure to hear the other half of our conversation on Nick’s show, Gene Therapy Podcast . Roles are flipped on his show where Nick interviews Kira about how to utilize social media to learn about genetic counseling, and to network and build a career. Sponsoring this episode is Advanced Tele-Genetic Counseling (AT-GC) which provides virtual appointments to meet with a certified genetic counselor. These one-on-one conversations can help you understand how your own genetics may play a role in your health including
Fri, June 19, 2020
#124 Infertility Series: Jennifer Eccles on PGT for Polygenic Conditions
This episode continues DNA Today’s series about infertility. Over the last five episodes of DNA Today, we talked with experts in fertility. On the first episode we heard from Lauren Isley, a genetic counselor about artificial reproductive technologies and the genetic counseling side. We also had the Baileys on the show to share their reciprocal IVF journey in part 1 and part 2 . The following episode the filmmakers of ANYA, a science fiction film about fertility. Last episode , Dr. Kara Goldman shared her experience in diagnostic fertility testing. Sponsoring the series is LetsGetChecked , check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”. Jennifer Eccles joins the show to discuss PGT-P, preimplantation genetic testing for polygenic conditions. She is the Head of Genetic Counseling at Genomic Prediction Clinical Laboratory. Jennifer has over 20 years of experience in reproductive clinical genetics at institutions like Columbia, Beth Israel Medical Center, and BioReference Laboratories. As a licensed and certified genetic counselor, Jennifer has spent her career discussing genetic testing with individuals and couples at various stages along the path to parenthood. In her current role, Jennifer provides genetic counseling services along with authoring clinical and marketing content. Jennifer's publication history is focused on the patient-facing aspect of genetics and clinical testing. She is also a fellow graduate of Sarah Lawrence’s Human Genetics program. On This Episode We Discuss: Types of PGT PGT-P for Polygenic Conditions Screening vs Diagnostic Testing List of Polygenic Conditions Screened Polygenic Risk Scores PGT-P Steps Cost and Insurance Genetic Counseling Learn more about Genomic Prediction and their PGT-P on their website genomicprediction.com and follow them on Twitter , Instagram , <a href="https://www.facebook.com/Genomic-Prediction-206515586784814/a
Fri, June 05, 2020
#123 Infertility Series: Dr. Kara Goldman on Fertility Testing
DNA Today stands in solidarity with BLM and in doing so we wanted to share a few resources with you listeners where you can educate yourself by listening to Black voices in our genetics community. You can support BLM through donations to ActBlue here . Dr. Janina Jeff was a guest back on episode 117 where she shared her new podcast, “ In Those Genes ”, that uses genetics to uncover the lost identities of african descended americans through the lens of black culture. Please, listen and support her show along with other black podcasts like American Origin Stories , She Too STEM , PhDivas among many others. We also wanted to bring awareness to the Minority Genetic Professionals Network . This group supports minority medical genetic providers and trainees to increase the diversity in our profession and to serve minority communities. MGP also provides resources on how to support non-white patients and co-workers. You can also follow them on Twitter and Instagram . Learn more through Twitter accounts like @DecolonizeDNA and @BlackAFinSTEM , articles in AJMG and AACC . This episode continues DNA Today’s series about infertility. Over the last four episodes of DNA Today, we talked with experts in fertility. On the first episode we heard from Lauren Isley, a genetic counselor about artificial reproductive technologies and the genetic counseling side. We also had the Baileys on the show to share their reciprocal IVF journey in part 1 and part 2 . The following <a href="http://dnapodcast.com/episodes/20
Fri, May 15, 2020
#122 Infertility Series: ANYA, Science Fiction Film
This episode continues DNA Today’s series about infertility. Over the last few episodes of DNA Today, we talked with experts in fertility. On the first episode we heard from Lauren Isley, a genetic counselor about artificial reproductive technologies and the genetic counseling side. We also had the Baileys on the show to share their reciprocal IVF journey in part 1 and part 2 . Sponsoring the series is LetsGetChecked , check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”. It’s been so interesting to hear different perspectives about fertility as it impacts so many people’s lives. Currently 7.3 million Americans are facing infertility! I hope you all have learned a lot alongside us. Be sure to go back and listen to all the fertility episodes if you are interested! On this next installment of the fertility series two guests join the show, documentarian Jacob Okada and anthropologist Carylanna Taylor , PhD who wrote and produced ANYA, a fictional film about fertility. Through their company, First Encounter Productions , Carylanna and Jacob are committed to creating complex characters and compelling stories informed by anthropology, science, and current events. ANYA has had international screenings and was featured as a "Science and Diversity in Film" on Forbes . On This Episode We Discuss: ANYA Film Synopsis Inspiration for ANYA Keeping up with Genetic Technology and News Scientifically Accurate Script Writing Proper Lab Equipment Features Featured Genetic Technology PCR, Sequencing, UCSC Genome Browser, CRISPR Inclusivity in Science Fiction Films Forbes had a fantastic feature of ANYA exploring the diversity in the film. Dr. Ruth McCole, who was a scientist on the set, wrote up her experience here .<a href="https://www.rottentoma
Fri, May 01, 2020
#121 Infertility Series: Baileys on Reciprocal IVF Part 2
This episode is part of DNA Today’s ongoing infertility series. The series was launched hearing from Genetic Counselor Lauren Isley, she shared about artificial reproductive technologies and infertility genetic counseling. Sponsoring the series is LetsGetChecked , check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”. Last episode we heard from Katie and Christina Bailey. They were sharing their journey to parenthood through reciprocal In Vitro Fertilization (IVF). We continue this conversation on this episode, so if you haven’t heard the first part of our discussion, you are going to want to listen to the previous episode where Christina and Katie Bailey talk about the beginning of their story with IVF. The Baileys have a large following of nearly 100,000 on Instagram, so you can check them out @BabyBaileyMamaDrama . On This Episode We Discuss: Conceiving a Second Time Genetic Testing During Pregnancy Talking to Kids About Their Conception Direct-To-Consumer Genetic Testing Finding Biological Relatives Decision to Make Family’s Story Public Cost of IVF Future Kids and Names Advice for People Going Through Fertility Treatments If you are interested in more details about the cost, the Baileys provided a breakdown here . The Bailey’s story was also summed up here . Join nearly 100,000 others in following them on Instagram and Youtube both at @BabyBaileyMamaDrama. You can also check out their blog, babybaileymamadrama.wordpress.com . DNA Today’s infertility series continues on the next episode! New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else we are up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com .
Thu, April 23, 2020
Match Day Zoom 4/24 7pmET
Celebrate Match Day with DNA Today on Friday, April 24th at 7pmET (4pmPT) on Zoom. We want to wish you congrats and share our advice for navigating grad school. Previous guests from last year’s Match Day episode from Sarah Lawrence College’s Class of 2020 will be hosting including Karl Krahn, Maria van Noordenne, Ashlyn Enokian, and Kira Dineen. We’ll also be doing a QnA, so bring your questions! In the meantime, you can revisit our episode (#101) to hear tips from the hosts on how to prepare and what to expect during your first year. All are welcome to attending including current applicants (matched and not matched), prospective/future applicants, and listeners of the show!
Fri, April 17, 2020
#120 Infertility Series: Baileys on Reciprocal IVF Part 1
This episode continues the DNA Today’s series about infertility. If you haven’t yet heard the episode with Genetic Counselor Lauren Isley, I highly recommend you go back and listen to learn more about the artificial reproductive technologies and the genetic counseling side. It’s a great preview into this episode. Sponsoring the series is LetsGetChecked , check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”. Currently 7.3 million Americans are facing infertility, and this series is bringing awareness to infertility along with teaching the science and genetic side. On this episode, we are going to hear personal perspectives. Joining me are Katie and Christina Bailey. They share their journey to parenthood through reciprocal In Vitro Fertilization (IVF). Christina and Katie have a large following of nearly 100,000 on Instagram, so you can check them out @BabyBaileyMamaDrama . This is part 1 of our conversation, for part 2, you will have to tune into the next episode to hear where the Bailey are today. On This Episode We Discuss: Deciding on Path to Parenthood Educating Friends and Family Choosing a Sperm Donor Hormones for IVF Techniques to Fertilize Eggs Considering Embryo Adoption To hear about the rest of the Bailey’s IVF journey you will have to tune into the next episode of DNA Today! In the meantime, join nearly 100,000 others in following them on Instagram and Youtube both at @BabyBaileyMamaDrama. You can also check out their blog, babybaileymamadrama.wordpress.com . Don’t forget to hear the rest our our conversation in the next episode of DNA Today! New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else we are up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com .
Fri, April 03, 2020
#119 Infertility Series: Lauren Isley on Fertility Genetic Counseling
This episode is kicking off a series about infertility. The launch of this series is coinciding with infertility awareness week, April 19-25th, 2020. Over the next few episodes of DNA Today, we will be talking to experts in fertility these include genetic counselors, a couple who went through IVF, even filmmakers who produced a science fiction movie about fertility. Sponsoring the series is LetsGetChecked , check out their home testing kits including fertility, sexual health and others. Receive your own kit for 20% off by using code “DNAToday”. Currently 7.3 million Americans are facing infertility, and we wanted to bring awareness to this, but also education by having these conversations to learn about the science and genetic side, but also the patient side and hearing how infertility has impacted people’s lives and hearing their perspective. So many excited guests coming up! The first guest to launch this series is Lauren Isley , who is a genetic counselor that specializes in fertility and assisted reproductive technologies, known as ART for short. She is a Clinical Science Liaison at Generate Life Sciences (Formerly California Cryobank Life Sciences), a company that provides reproductive tissue and donor gamete services as well as newborn stem cell storage. Lauren is the Chair Elect of the Genetic Counseling Professional Group of the American Society of Reproductive Medicine (ASRM) and former chair of the ART/Infertility SIG of NSGC. Lauren has a Bachelor’s Degree in Biology from the University of Missouri. She went on to earn her Masters of Science in genetic counseling from Wayne State University. On This Episode We Discuss: Roles of a Genetic Counselor in Fertility Fertility Technology Options Carrier Screening In Vitro Fertilization (IVF) Types of Preimplantation Genetic Testing (PGT M, SR, A) Information and Limits of PGTs Egg and Sperm Freezing/Donating Direct-to-Consumer (DTC) genetic testing impact on gamete donation Next episode we will be continuing this infertility series. Again infertility awareness week is April 19-25th, 2020. You can learn more by going to RESOLVE: The National Infertility Association. They are a non-profit organization dedicated to ensuring that all people challenged in their family building journey reach resolution through being empowered by knowledge, supported by community, united by advocacy, and inspired to act. Their website is resolve.org . You can als
Fri, March 20, 2020
#118 Zaki Sabet on Hematologic Cancers
Zaki Sabet joins the show to discuss issues in the diagnostic process of hematologic cancers. Zaki has been with Precipio since co-founding the company in 2011 and currently serves as the Chief Operating Officer. He holds over 15 years of experience in laboratory management spanning all fields of reference laboratory operations primarily focusing on cancer diagnostics, which is the focus of our conversation on this episode. Prior to Precipio, Zaki has served as a consultant with the College of American Pathologists (CAP) for many years as well as several diagnostic companies in setting up their specialized cancer testing operations. Zaki holds a Bachelor of Science degree in Biomedical Engineering from the New Jersey Institute of Technology. On This Episode We Discuss: Background on Hematologic Cancers including Subtypes Frequency of Hematologic Cancers Prevalence of Misdiagnosis Diagnostic Odyssey for Patients Misdiagnosis Impact on Treatment and Disease Course Impact of Physician’s Clinical Suspicions on Lab Tests Ordered Current Lab Tests to Diagnose Precipio’s Solution to Reducing Misdiagnosis with IV-Cell Learn more about Precipio on their website . You can also follow them on Twitter , LinkedIn and Facebook . Check out Picture Genetics, a clinical grade DNA testing service where physicians and genetic counselors are involved. These tests are designed for every stage of life, from family planning and newborn health, to personal wellness and disease risk. The test sequences entire genes that are medically actionable. It’s easy to order and understand with good looking reports, live chats, emails and even genetic counseling. To order your Picture Genetics go to PictureGenetics.com use code “DNATODAY” for 25% off and free-shipping! Stay tuned for the next episode of DNA Today on April 6th, 2020 which kicks off the fertility series! New episodes are released on the first Friday of the month with some bonus episodes thrown in there. In the meantime, you can listen to over 100 other episodes on Apple Podcasts , Spotify , or streaming on the website . See what else I am up to on <a href="https://twitter.com/
Fri, March 06, 2020
#117 Dr. Janina Jeff on African Genomes
This episode continues the crossover series with other podcasts. Joining the show is Dr. Janina Jeff, who is a Human Geneticist and the first African American to graduate with a PhD in Human Genetics from Vanderbilt University. She is currently a Senior Scientist at Illumina, a biotech company that creates technology for companies such as Ancestry.com and 23&Me. Her research career was focused on population genetics, specifically studying admixed populations (descendants with African ancestry) and discovering population specific genetic risk factors of common disease. Her podcast, “In Those Genes”, is a hip-hop inspired show that uses genetics to uncover the lost identities of African Americans. On This Episode We Discuss: Inspiration to pursue genetics career Diversity advancing research Unique aspects of African genomes Disparity of health and medicine in Non-European populations Ancestry’s Horrendeous Advertisement Romantizing Slavery Dr. Jeff’s 46 Chromosomes and a Mule Article Real Cost of Direct-to-Consumer Genetic Testing Becoming the Primary Shareholders of our Genetic Information Dr. Jeff’s TEDtalk “In Those Genes” Podcast Dr. Janina Jeff won Spotify’s “Sounds Up Bootcamp” which helped to launch her new podcast, “In Those Genes” available on Spotify , Apple and all major podcasting apps. Or you can go straight to their website , Twitter , or Instagram (@inthosegenes). Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else we are up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com.
Fri, February 21, 2020
#116 DNA Ally on Direct To Consumer Genetic Testing
By the end of 2020, roughly 100 million people will have taken an at-home DNA test, according to MIT Technology Review . To put that into perspective, that’s more than the combined populations of Texas, California and Florida! In this podcast episode we explore considerations of direct-to-consumer genetic testing. Guests joining the episodes are from DNA ALLY, the matchmaker between direct-to-consumer genetic test consumers and genetic counselors. Nargol Faravashi, is the Co-Founder of DNA ALLY with a background in genetics and business. She had over 20 years of experience in launching clinical products for genomic companies along with an extensive background in business and marketing. Christin Coffeen has been a licensed certified genetic counselor for almost 20 years. She has a background in cancer and prenatal genetic counseling in the clinical setting as well as extensive industry background in medical affairs. She is also a member of DNA ALLY’s board of advisors. On This Episode We Discuss: Comprehensiveness of direct to consumer (DTCs) genetic testing tests Types of information from genetic testing including BRCA1/2 testing Alzheimer’s disease Carrier status for conditions like Cystic Fibrosis Possibility of genetic testing becoming routine testing Healthcare provider’s ability to counsel patients on DTCs Read more on DNA ALLY’s Blog Post DNA ALLY’s solution to the overwhelming demand of counseling on DTCs Opportunities for genetic counselors Learn more about DNA ALLY on their website and receive 15% off with promo code “DNAToday” on your direct-to-consumer genetic testing session with a genetic counselor. Stay tuned for the next new episode of DNA Today on March 6th with Dr. Janina Jeff talking about her brand new genetics podcast, In Those Genes ! New episodes are released on the first and third Friday of the month. In the meantime, you can listen to over 100 other episodes on Apple Podcasts , Spotify , or streaming on the website . Don’t forget to check back in April for the launch of the first ever series on the show about fertility! Its launch is timed to co
Fri, February 07, 2020
#115 Daria Julkowska on The European Joint Program on Rare Diseases
Dr. Daria Julkowska joins the show for Rare Disease Month as the Coordinator of the European Joint Program on Rare Diseases. This organization was newly established in January 2019. Daria is of Polish origin but she has lived and worked in France for the last 18 years. She has a PhD in molecular biology and is involved in rare diseases research and management for the last ten years. The European Joint Program on Rare Diseases represents 89 partners across the EU and beyond. Internally, the partners include research funders, research institutions and infrastructures, hospitals and of course patient organizations. The program is financed by the EU and the states participating in the project. On This Episode We Discuss: Motivation to Start the Organization Goals for the Rare Disease Community Countries Represented Rare Disease Visual Platform Advancing Rare Disease Research Ongoing Research Projects Funding for Research Combating Exorbitant Costs of Treatments (Ex: Spinraza) Rare Disease Day/Month Involvement Happy Rare Disease Month! If you are in the US you can get involved by going to the National Organization for Rare Disorders’ website, rarediseases.org . You can find ways to get active on social media and in person events. Learn more about The European Joint Program on Rare Diseases by visiting their website . Want to hear more from the rare disease community? Check out all the 20 rare disease episodes of DNA Today here ! Recent episodes include #102 Seth Rotberg on Huntington Disease , #98 Lydia Seiders on Aplastic Anemia , and #95 Kieger Family on Familial Adenomatous Polyposis . Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com.
Fri, January 03, 2020
#114 Matt Burgess on Australasia Genetic Counseling
Genetic Counselor Matt Burgess join the first episode of 2020 to talk about Australian genetic counseling and being a clinical science liaison. He built one of Australia’s most successful genetic counseling private practices in Melbourne. Matt provided versatile genetic counseling services using a broad scope of knowledge including hereditary cancer, neurogenetics, prenatal genetics, adult, pediatric and cardiac genetics. He earned a graduate degree in genetic counseling from the University of Newcastle and a Masters of Applied Positive Psychology at The University of Melbourne. He is currently a Clinical Science Liaison at Baylor Genetics. Matt also hosts another genetics podcast, “ Demystifying Genetics ”, which makes this is episode part of my crossover series with other genetic podcasts. On This Episode We Discuss: Australian Genetic Counseling Number of Genetic Counselors and Programs Main Areas of Practice Healthcare System Compared to the United States Private v. Public Health Facilities Insurance and Hospital Structures Certification Process Private Practices Requirements to See A Genetic Counselor Industry Speciality Role of a Clinical Science Liaison The Advantage of a Clinical Background How to Support Sales Education Stay tuned for the next new episode of DNA Today! New episodes are released on the first Friday of the month with some bonus episode thrown in there. In the meantime, you can listen to 113 other episodes on Apple Podcasts , Spotify , or streaming on the website . See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com .
Fri, December 06, 2019
#113 Lauren Winter on Dental Genetics
This episode is part of the crossover series with other podcasts, today’s episode is a crossover with “Advancing Dentistry” also hosted by Kira Dineen. Lauren Winter joins host Kira Dineen on this episode exploring the genetics of dentistry. They are both genetic counseling graduate students, Lauren attends the University of Pittsburgh and Kira attends Sarah Lawrence College. Lauren is a Research Assistant involved in the COHRA2/COHRA Smile Projects at the Center for Craniofacial and Dental Genetics. Lauren and Kira discuss this project and dental genetics in general. On This Episode We Discuss…. Role of Genetics in Oral Health Potential Uses of Genetic Testing in Dentistry Factors Contributing to Oral Health Disparities in Appalachia Data Collecting and Analysis of Human Genetics, Oral Microbiome, Oral pH etc. Participant Requirements and Advantages to a Longitudinal Approach Relationships Between Genetic Factors, Dental Caries/Cavities and BMI Potential Ways for Dentistry and Genetics to Merge Learn more about Lauren’s experience in her role as a graduate research assistant at the Center for Craniofacial and Dental Genetics in this blog post. Stay updated by following the CCDC on Facebook and Lauren on Twitter. Want to learn more about dentistry? Be sure to check out “Advancing Dentistry” podcast on Apple, Spotify, and AdDent.com. You can also follow on Twitter, Facebook, Instagram and LinkedIn. If you are a dentist or part of a dental team take a look through AdDent’s dental instruments and use code “ADPOD15” for 15% off in the store. Stay tuned for the next new episode of DNA Today released on the first Friday of the month with some bonus episode thrown in there. See what else we are up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.
Fri, November 22, 2019
#112 Sam Toy on Pediatric Genetic Counseling
On this episode, we explore the pediatric speciality of genetic counseling. Guest Sam Toy is a pediatric genetic counselor at the Washington University School of Medicine in St. Louis. She earned her BS in Biology and MS in Professional Biology from Indiana University. She went on to earn her MS in genetic counseling from Indiana State University. On This Episode We Discuss: The role of a pediatric genetic counselor Outline of a genetic counseling session Unique aspects of pediatric genetic counseling Genetic testing whole genome/exome vs specific genes Genetic testing results’ give a diagnosis, change medical management, and insurance coverage Psychosocial aspects of counseling Transitioning from grad school to being a genetic counselor full time Application deadlines are approaching for genetic counseling grad schools, if you are working on your applications check out episode 87 which features tips from genetic counseling students on applications. Then episode 97 has advice on the other half of the application process (interviews, ranks, and match) once January/February rolls around. Next week is Thanksgiving in the US, and that means it’s National Family Health History Day , so if you have an opportunity with family this holiday ask them about health history, it’s the best genetic test we have! Variant classification and interpretation have become important skills for genetic counselors. But it takes so long! Even if it’s just a VUS you want to double check. To make it streamlined check out franklin.genoox.com/DNAToday . You can access so much information about a variant including relevant publications, automated ACMG classifications, annotations and phenotypes/disease. Best part? It’s free! All this data about one variant is compiled at your fingertips. No more sifting through PubMed! Join the future of variant interpretation. Stay tuned for the next new episode of DNA Today on December 6th, 2019 . New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else I am up to on Twitter , Instagram , Facebook and <a href="https://itunes.apple.com/us/podcast/dna-today-a-genetics-podcast/id1209263436?mt=2"
Mon, November 11, 2019
#111 NSGC 2019 Recap
The National Society of Genetic Counselors celebrated 40 years at this year’s annual conference! In 2019, we surpassed having 5,000 genetic counselors in the US/Canada! We now have 45 genetic counseling graduate programs in the US and 40 more international. In this podcast episode we recap highlights from the sessions and tips for new attendees next year. Below are some of our talking points and resources we mentioned in the episode. Also check out #NSGC19 on Twitter to read more insight from the conference. Should All Women With Breast Cancer Be Offered Genetic Testing? Panel: Dr Mark Robson from MSK, Dr Peter Beitsch from the Dallas Surgical Group, Sue Friedman founder of FORCE . Moderators: Dr. Lisa Madlensky from UC San Diego and Dr. David Euhus from Johns Hopkins Main points of the talk included… Clinical utility Informed consent vs informed assent Research vs diagnostic Concordant vs discordant results Accessibility and information giving Provider education and utilization of genetic counseling skillset NCCN Guidelines Emerging Therapies for Adult-Onset Neurologic Diseases: Possibilities, Pitfalls And Patient Impact Dr. Sonia Vallabh Prion Alliance’s Website WIRED’s article, “ One Couple’s Tireless Crusade to Stop a Genetic Killer ” The Guardian’s article, “ The Lawyer Who Became A Scientist To Find A Cure For Her Fatal Disease .” Enabling The Beautiful Uncertainty of Life: My Journey With PGT-M Lee Cooper, JD Lee’s article in STAT News, “ Genetic Testing Plus IVF Can Sidestep Genetic Disease And Reduce The Need For High-Priced Therapies .” The Institute For Genetic Disease Prevention In Utero Stem Cell Transplantation: Historical Context, Present State And The Future Of Fetal Molecular Therapies Billie Racha
Thu, October 24, 2019
#110 Gattaca, 22 Years Later
It’s been 22 years since THE genetic thriller was released…. Gattaca. How has the film aged with genetic technology, society, ethics, and more? Find out in this episode! If it’s been a while since you’ve seen the film, refresh yourself with the plot summary below. Vincent Freeman (Ethan Hawke) has always fantasized about traveling into outer space, but is grounded by his status as a genetically inferior "in-valid." He decides to fight his fate by purchasing the genes of Jerome Morrow (Jude Law), a laboratory-engineered "valid." He assumes Jerome's DNA identity and joins the Gattaca space program, where he falls in love with Irene (Uma Thurman). An investigation into the death of a Gattaca officer (Gore Vidal) complicates Vincent's plans. On This Episode We Discuss Ethical Questions Like... How has our understanding and appreciation of the film changed throughout our careers? Do you think the way Vincent exfoliates and environment would stand up to our current technology? How accurate did the film predict fertility technologies like PDG? What is the true goal of genetic perfection? What is the cost? What types of polygenic risk scores are being offered today? How well can laws really prevent genetic discrimination? How much can you protect your own genetic information? How accurate is the film in regard to the society effects of the “haves” and “have nots”? What was the alternative ending of Gattaca? What does it warn society? Do you have more thoughts about Gattaca? We want to hear from you, tweet @DNApodcast to share your insight! Too long for a tweet? Email in at info@DNApodcast.com. Stay tuned for the next new episode of DNA Today in early November where I will be b joined by a few guests to discuss the National Society of Genetic Counselors Annual Conference. New episodes are typically released on the first Friday of the month. Often I’ll have a second episode later in the month. See what else I am up to on Twitter, Instagram, Facebook and LinkedIn. Questions/inquiries can be sent to info@DNApodcast.com.
Fri, October 04, 2019
#109 Shenela Lakhani on Genetic Counseling in Qatar
Shenela Lakhani is the Director of Genetic Counseling and Clinical Engagement for the Center of Neurogenetics at Weill Cornell Medical College, in New York City. In this role she studies the genetics of neurodevelopmental disorders and neurological disease of aging and adulthood. Before this role, she was the first certified genetic counselor in Qatar, a country in the Middle East. Shenela established the profession in the country and promoted genetics within the Middle East by speaking at international conferences. In Qatar she helped to establish high-risk breast cancer screening guidelines and a high-risk gastrointestinal clinic while contributing to local testing and screening guidelines. On this episode we explore what it was like to be the first certified genetic counselor in a country and how she was able to start the profession there and make an impact in public health in Qatar. On This Episode We Discuss: Inspiration and Motivation to Move Across the World Challenges of Starting Genetic Counseling in A New Country Common Genetic Disorders in Qatar Genetic Stigma and Public Perspective of Healthcare Genetic Carrier and Newborn Testing in Qatar Adaptations to Counseling in A Different Country Learn more about Shenela Lakhani on her LinkedIn Profile and Weill Cornell’s Center for Neurogenetics website . Stay tuned for the next new episode of DNA Today on October 24th, 2019 . In this special installment my peers Ale Cantu and Catherine Mayo join me to celebrate the 22nd anniversary of the genetics film Gattaca by discussing its relevance today in the field. New episodes are released on the first and third Fridays of the month. See what else we are up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com.
Fri, September 20, 2019
Dr. Beck Winslow on Pharmacogenomics
On this episode Dr. Becky Winslow, a Doctor of Clinical Pharmacy, shares her insight about pharmacogenomics. She is a Clinical Pharmacogenetics Implementation Consortium Member, a Registered Pharmacogenomics Education Provider and a pharmacogenomics implementation specialist as the owner of inGENEious RX, LLC. On This Episode We Discuss: Pharmacogenomics vs Pharmacogenetics Current Understanding of Pharmacogenomics Testing Available General Population Testing Areas of Healthcare Ultized Precision Medicine Approach to Prescriptions Mental Health, Cancer etc. Roadblock to Widespread Use Physicians Ability to Translate Test Results Genetic Counselors Potential Role Future of Pharmacogenomics Check out the first truly anonymous direct to consumer genetic testing company, Secret Sequence. The founders joined me on episode 105 to share about the company and what they offer consumers. For $25 off two or more DNA kits use promo code, “DNAToday” at s ecretsequence.com . See what else they are up to on Instagram , Facebook , and Twitter . Have questions for them? Give them a ring at 833-Secret3. Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com.
Fri, September 06, 2019
#107 Eleanor Griffith on Grey Genetics
The genetic podcast crossover series continues with Grey Genetics’ Patient Stories! Host Eleanor Griffith returns as a guest to offer listeners a peek inside her genetic counseling company behind the podcast. Eleanor Griffith is a board certified genetic counselor and the founder of Grey Genetics, a genetic counseling and consulting company. Her clinical experience includes both prenatal and cancer genetics, in both public and private academic hospital settings. She is a member of the Admissions Committee for The Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College and a Course Instructor at Sarah Lawrence where she also received her master’s. Eleanor’s previous appearance was on episode 71 of the show back in 2017. She shared her insight on how to have a competitive genetic counseling graduate school application. There are also 2 other episodes of this show ( 87 and 97 ) where myself and a panel of other grad school students discuss the application process including the match system, which was brand new for my class. On This Episode We Discuss: Grey Genetics’ Genetic Counseling Services Genetic Counseling Specialities Offered Process from the Patient Perspective. Requirements, Insurance, Self-Pay Genetic Counselor State Licensure for Telehealth Be sure to check out Grey Genetics’ podcast, Patient Stories . Stay updated on Twitter and Instagram . Meet the Grey Genetics network ! Learn more about Grey Genetics in this Medium piece . Stay tuned for the next new episode of DNA Today. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com.
Fri, August 23, 2019
Sano Genetics on Autism Genetics
This episode launches a new series within the show: crossover episodes! I’m teaming up with other genetics podcast to invite hosts of other shows to join me on DNA Today and sometimes I’ll be a guest on their show as well. Kicking off this new series is Dr. Patrick Short, the CEO of Sano Genetics. He is experienced in genomics research with a focus on large-scale genome sequencing projects and rare disorders. Previously he was at the Wellcome Trust Sanger Institute and the University of Cambridge in England. We explore current understandings of genetics of autism and Sano Genetics’s studies. On This Episode We Discuss: Sano Genetics’ for Patients, Consumers and Researchers Eligible Participants For Sano Genetics' Studies Underlying Autism and Mathematical Ability Current Understanding of Autism Genetics Genetic Testing for Autism University of Cambridge’s Autism Research Studies Largest Study of Psychological Sex Differences and Autistic Traits This episode is one part of our conversation, to hear the other half of our conversation check out their podcast, “The Genetics Podcast”. On that episode, Dr. Patrick Short interviews me about genetic counseling and cytogenetics. Stay tuned for the next new episode of DNA Today next week on Friday September 6th. New episodes are released on the first Friday of the month with some bonus episode thrown in there, like this one! See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com . This summer I was interviewed on a few podcasts including In EyeSight talking about impact social media’s impact on the rare diseases community and on Dr. Mara Karpel’s Your Golden Years sharing about genetic counseling and testing.
Fri, August 02, 2019
#105 Secrete Sequence on Genetic Privacy
This episode launches Secret Sequence as the new sponsor for the show! Joining me on the episode are the founding team of Secret Sequence, Jason Corbiere and Austin Maier. On This Episode We Discuss Genetic Privacy: - Secret Sequence’s Genetic Testing Kits - Data Security of Genetic Tests - Major Data Breaches - GEDmatch ’s Role in Identifying the Golden State Killer - Genetic Information Nondiscrimination Act of 2008 (GINA) - Data Privacy Responsibility of Genetic Testing Companies (DTC and medical grade) - Continued Explosion of Direct To Consumer Genetic Testing ( 100 million consumers by 2021 ) - Kira’s Experience with Secret Sequence Genetic Testing Kits For $25 off two or more kits use promo code, “DNAToday” at secretsequence.com. See what else they are up to on Instagram , Facebook , and Twitter . Have questions for them? Give them a ring at 833-Secret3. Stay tuned for the next new episode of DNA Today or go back and listen to over 100 other episodes! New episodes are released on the first Friday of the month with some bonus episode thrown in there. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com.
Sat, July 06, 2019
Nominate "DNA Today" In The Podcast Awards
TLDR: Nominate “DNA Today” in the Podcast Awards ’ Science & Medicine Category before July 31st. I have a big favor to ask from each of you. You may have heard in my last episode, the Podcast Award nomination season has begun! It’s a people’s choice type of award. So, I need listeners like you to nominate the show in the Science and Medicine category . DNA Today was nominated back in 2015 and 2016. And it would be such an honor to be nominated again. In order to be in the running though, I need 2 minutes of your time . It’s very simple, here are the steps! PodcastAwards.com Click Blue Button “Nominations Now Open” ( or click this direct link ) Sign up (name, email, password) Enter the verification code from your email Scroll down to Science and Medicine Category on the left Select “DNA Today: A Genetics Podcast” Nominate any other of your favorite shows Click “Save Nominations” Post on social media that you nominated DNA Today and tag me for a retweet/share and follow back! Nominations close on July 31st, 2019. But don’t forget! If you enjoy the show or it has help you learn about genetics this is a great way to give back by just taking 2 minutes to nominate the show. It really helps to increase visibility so other people can also benefit from learning through the show. Thanks in advance! I really appreciate the support from all you lovely listeners.
Fri, July 05, 2019
#104 Genetics of Opioid Addiction
Listeners, I have a big favor to ask from all of you. The Podcast Award nomination season has begun! It’s a people’s choice type of award. In order to be in the running I need listeners like you to nominate the show. DNA Today was nominated back in 2015 and 2016. It would be such an honor to be nominated again. In order to be in the running though, I need 2 minutes of your time. It’s very simple… Go to PodcastAwards.com and enter “DNA Today” for the Science and Medicine category. That’s it! Now this closes July 31st, 2019. Don’t forget, if you can please go nominate the show if you enjoy listening! It really helps to increase visibility so other people can also benefit from learning through the show. Thanks in advance! I really appreciate the support for the show. The Camden Opioid Research Initiative has a three pronged approach as outlined below. 1) A biobank for blood and brain samples taken from people who have died from overdose as well as family members who are interested in donating. 2) A prospective clinical study of chronic pain patients to determine the interplay between genetic and biological risk factors for opioid addiction. 3) A clinical study of people currently being treated for opioid addiction to investigate what treatments work best for different genetic makeups. Three scientists from the project join me: Dr. Stefan Zajic , the scientific lead on the project. Dr. Kaitlan Baston , the director of Addiction Medicine at Cooper University Health Care. Dr. Russ Buono , a Professor of Biomedical Sciences at Cooper Medical School of Rowan University. On This Episode We Discuss: -Types of Genetic Testing for Opioid Susceptibility -Non-Genetic Factors to Opioid Dependence -Brain Biobank of Opioid User Tissues -Brain Differences of Opioid Users -Potential Uses of Opioid Genetic Research Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month. With a few bonus episodes here and there. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to Kira Dineen at info@DNApodcast.com.
Fri, June 07, 2019
#103 Brianne Kirkpatrick on Adoptee Genetic Testing
On This Episode We Discuss: Services WatershedDNA Offers Motivation Behind Writing “The DNA Guide for Adoptees” Differences in Genealogical Research for Adoptees Compared to General Population Preparing to Meet New Biological Family Members Advice for DNA Testing Adoptee Related Searches DNA Testing for Children/Minors to Find Biological Relatives Insight for Adoptee’s Seeking Medical Information via DNA Testing Non-DNA Methods to Search for Lost Biological Relatives My Heritage’s DNA Quest Project for Adoptees Listen to episode #80 with My Heritage’s Rafi Mendelsohn to learn more . Since recording this project has expanded to offer more free kits! Resources for the Adoptee/Donor Community Facebook Groups: DNA Detectives and Adoption Search and Reunion AdopteeRightsLaw.com Look out for our “The DNA Guide For Adoptees” book giveaway in the next couple days on social media (links below)! Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to Kira Dineen at info@DNApodcast.com .
Fri, May 03, 2019
#102 Seth Rotberg on Huntington Disease
Seth Rotberg, a rare disease patient advocate and motivational speaker, joins the show to share his perspective on Huntington Disease (HD). From 2011 – 2015, Seth served on the boards for the HDSA National Youth Alliance (NYA) and HDSA Massachusetts Chapter to continue his efforts in the HD community. He became the President of the HDSA NYA in 2012 and HDSA Massachusetts Chapter in 2013, where he led a group of dedicated volunteers to plan and execute fundraising and educational events. Seth is still an active member of the Huntington Disease community and currently sits on the Board of Trustees for the Huntington’s Disease Youth Organization (HDYO) . As a member of the working board, he connects young people to the proper social, emotional, and educational resources needed when coping with HD. His hope is to be a mentor for young people who face adversity by sharing how taking control of his HD journey has given him opportunity, fulfillment, and hope. On This Episode We Discuss: -How Huntington Disease Affects the Body and Mind -Seth’s Journey with Huntington Disease -Seth’s Family’ History and Experience with Huntington Disease -Genetic Testing Process and Seth’s Advice -Importance of a Support System -Inspiration Behind Seth Becoming a Patient Advocate To read and hear more from Seth check out his website , follow him on Twitter , watch his TED Talk and listen to his own podcast, Rare Unplugged . Stay tuned for the next new episode of DNA Today. New episodes are released on the first Friday of the month. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com .
Fri, April 26, 2019
#101 Genetic Counseling Match Day
Happy Genetic Counseling Match Day! Today we are celebrating the genetic counseling graduate program match day by discussing how to prepare and what to expect during the first year. We also provide advice for applicants that didn’t match in this cycle and offer inspiration to apply next round. In a way this is a follow up episode from the application process discussions. If you are thinking about or planning on applying to genetic counseling grad schools check out those episodes. Episode 87 was the first part of this conversation where we discussed how to gather the experience and classes to have a competitive application. We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. In episode 97 , the panel discussed the second portion of the application cycle: interviews, ranking, and matching. On This Episode We Discuss: Classes to Take to Fulfill Prerequisites before Enrolling Managing the Finances Loans, Financial Aid, Budgeting, and Jobs Extra Steps for International Students Healthcare, Visa, Moving Finding Housing and Roommates First Year Classes Rotations Disability and Genetic Counseling Thesis Student Mentor Program The Panel Karl Krahn is a first year genetic counseling student at Sarah Lawrence College. He earned his BS in Biology from the University of the Fraser Valley in Abbotsford, British Columbia, Canada at the end of 2017. During his undergraduate career, Karl performed research in bioethics at UFV and research on food systems in Nairobi, Kenya at Aga Khan University. He volunteered at a genetic counseling office and was a mentor for his community’s youth mentorship program. His professional interests include, oncology, variant research, and, his personal favourite, the murky waters of how athletic performance is intertwined with genetics. Maria van Noordenne is from British Columbia, Canada. She earned her BS in Psychology (with a Biology focus) and a minor in Statistics, as well as her MS in Cognition and Brain Sciences from University of Victoria in 2017. She spent time her time volunteering at a transition house crisis line and at medical genetics in Victoria General Hospital. She also worked as a crisis counselor at a youth shelter in add
Fri, April 05, 2019
#100 Carl Zimmer on Human Heredity
This show is a landmark episode, number 100! I want to sincerely thank all you listeners, new and old, for tuning in. It’s been such a fantastic experience over the last 7 years to share news and interviews with you all and learn along with you. I hope you’ve enjoyed listening to the shows as much as I have have enjoyed recording and producing them. Author Carl Zimmer joins me to discuss new and old hereditary concepts. He writes the Matter column for the New York Times and has contributed to The Atlantic, National Geographic, Time and Scientific America. He has won the Stephen Jay Gould Prize among many other honors for his journalism. Zimmer teaches science writing at Yale University. His books include Parasite Rex , Evolution: The Triumph of an Idea , Microcosm: E. coli and the New Science of Life , and his latest, She Has Her Mother’s Laugh: The Powers, Perversions, and Potential of Heredity which we discuss on this episode. She Has Her Mother’s Laugh has been named the 2018 science book of the year by the Guardian and Amazon. It was also included in 2018 book lists on The New York Times, Publishers Weekly, Kirkus Review, Mental Floss, Science Friday among others. On This Episode We Discuss: Early History of our Understanding of Hereditary Ever Changing Definition of Hereditary Types of Hereditary including Vertical vs. Horizontal Percentage of Shared DNA (or lack thereof) between Relatives Human Interest in Ancestry Learn more about Carl Zimmer on his website and stay updated with his writing by following him on Twitter and Facebook . You can also check out his book, She Has Her Mother’s Laugh on Amazon as well as the book he mentioned, “The Tangled Tree: A Radical New History of Life” by David Quammen . If you are interested in joining a genetic counseling book club check out Book Zebras! Their April book is Resurrection Lily by Amy Byer Shainman who I interviewed back in episode 25 of the show . If you enjoy this show, you might also be interested in the other healthcare podcasts I host and produce, Advancing Dentistry Podcast and Insight Says: A Mental Health Podcast
Fri, March 01, 2019
#99 Coriell Institute on Biobanking
Two leaders from the Coriell Institute for Medical Research join the show to discuss biobanking. Nahid Turan, Chief Laboratory Officer, and Alissa Resch, Chief Scientific Officer, lead separate aspects of the Institute scientific efforts. Coriell is known for its impact in the world of biobanking. If you’ve ordered biological materials in the past for research, there’s a good chance you’ve ordered from them before. In its 65 year history, Coriell has partnered with many federal, private and nonprofit organizations, offering expertise in the collection, processing, storage and distribution of biological materials, and in the process built one of the most diverse and important collections of biomaterials in the world. It’s because of their collection that endeavors like the Human Genome Project were possible and that the science of personalized medicine thrives today. On This Episode We Discuss: Definition of Biobanking and Process Sample Tissue and Species Types Number of Samples Disease Representation Approach to Finding Specific Samples Research Access and Shipment Organizations, Institutions and Projects Supplied Including the Human Genome Project and the 1,000 Genomes Project! Managing Big Bio Data To learn more about Coriell head over to their website , specifically their biobanking page . Stay updated with their latest news by following them on Twitter . Stay tuned for the next new episode on April 5th, 2019 . This will be the 100th episode of DNA Today! To celebrate I interview Carl Zimmer , a popular science writer for the New York Times and has also contributed to The Atlantic, National Geographic, Time and Scientific America. He has won the Stephen Jay Gould Prize Among many other honors for his journalism. Zimmer teaches science writing at Yale University. His books include Parasite Rex, Evolution: The Triumph of an Idea, Microcosm and his latest, She Has Her Mother’s Laugh which we will be discussing on next month’s episode. So tune back in on April 5th to hear the interview! New episodes are released on the first Friday of the month. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Any questions/inquiries are welcome and can be sent to info@DNApodcast.com.
Fri, February 01, 2019
#98 Lydia Seiders on Aplastic Anemia
To celebrate and honor Rare Disease Awareness month (February) Lydia Seiders joins me on the show. She is a volunteer Maryland State Ambassador for NORD, t he National Organization for Rare Disorders , through NORD’s advocacy arm the Rare Action Network. Her daughter was diagnosed with aplastic anemia, a form of bone marrow failure. This motivated Lydia to become an Ambassador for NORD. In this role, she leads about 200 network members across the state to raise awareness for approximately 600,000 patients affected by a rare disorder. Lydia leads educational initiatives and develops state-based campaigns to increase patient awareness. She partners with advocates nationwide to act on policy impacting the rare disease community. Lydia also works closely with the Aplastic Anemia and MDS International Foundation and the national bone marrow registry - Be the Match . She assists patients and families globally obtain reputable resources for bone marrow failure. Most recently she began collaborating with RARE Revolution Magazine , a dedicated free rare disease publication. She will help to share in the direction of the Rare Revolution movement. On This Episode We Discuss: Her daughter, known as #EmmaStrong, diagnosis of aplastic anemia Diagnostic journey Aplastic anemia symptoms and cause NIH’s role in Emma’s treatment Current research for aplastic anemia Lydia’s role as a state ambassador for NORD Educational initiatives and campaigns for the rare disease community NORD’s resources for parents and caregivers Advice for parents and caregivers of a loved one with a rare disease Resources Mentioned During The Show: National Organization for Rare Disorders ( RareDiseases.org ) RareAction.org When signing up, their system will link you to your state’s RAN by your zip code The Aplastic Anemia and MDS International Foundation Maryland’s Rare Action Network Facebook Page RAN is active in all 50 states, listeners can find their state to get involved Be The Match ( Emma’s Page ) Learn how to join the bone marrow registry Learn more about Emma in this blog post part 1 , part 2 and part 3 . Stay updated with Lydia by following h
Fri, January 04, 2019
#97 Genetic Counseling Grad School Interviews, Ranking, Matching (Part 2)
A panel of four incoming genetic counseling graduate schools discuss the application process. This is part two of two podcasts, discussing the second portion of the application cycle: interviews, ranking, and matching. Episode 87 was the first part of this conversation where we discussed how to gather the experience and classes to have a competitive application. We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has also been summarized on episode 87’s blog post . We hope prospective and applying students find this summary and these two episodes helpful! On This Episode We Discuss: Overall Application Timeline Schools Applied vs Interviews Invites Received Preparation Strategies for Interviews A Typically Interview Day Schedule Types of Interview Questions Methods to Keep Track of Schools/Interviews How the Match System Works Factors Used to Assess and Rank Programs Reasons for Our Number 1 Pick Match Outcomes The Panel Kira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features nearly 100 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She also hosts other healthcare podcasts including Advancing Dentistry and Insight Says: A Mental Health Podcast . Kira is the Communications Lead at My Gene Counsel , a digital genetic counseling company. She is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool ). Kira received her Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut. She is in Sarah Lawrence College’s Genetic Counseling Class of 2020. Brynna Nguyenton is a first year genetic counseling student at The Keck Graduate Institute . She earned her BS in Biolo
Fri, December 21, 2018
#96 Jim Cavan on Backpack Health
Jim Cavan, CEO and President of Backpack Health is featured on this episode. He has great passion for helping healthcare companies tackle systemic problems, and 20 years of executive health research and startup leadership experience. The development of Backpack Health is the result of several key goals of his, including improved access to and control of medical information, and less obtrusive collection of research data. Backpack Health is a mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys. The Backpack Health mission is to empower patients by making it easy for them to access, own and control all their health information to support better health for themselves, their loved ones and their communities. Just like a real backpack, the portable, multimodal, multilingual app allows users to carry around what matters most – their personalized, comprehensive medical information and documents – in one central location. Backpack Health also provides a platform for organizations to engage patients, collect up-to-date data and build communities around the globe. On This Episode We Discuss: How Backpack Health Started Jim’s Role at Backpack Health Backpack Health’s Services for Patients and Caregivers Specific Groups to Benefit Languages and Countries Covered How Users Can Access and Edit Their Information Data Security and Sharing Backpack Health’s Role In Research Patient Advocacy and Resources Learn more on Backpack Health’s website and stay updated with them on Twitter , Facebook , and Instagram . Stay tuned for the next new episode of DNA Today on January 4th, 2019 . This episode is part 2 of the discussion about the genetic counseling graduate school application process. In part 1 on episode #87 we discussed preparing for applications, how to apply to programs, and general advice. We also surveyed over 50 incoming students to capture more insight. I will be joined by the same panel of guest who are fellow genetic counseling students and we pick up where we left off by discussing the second half of the application process: interview, rank, and match. The show will be shifting to a new release schedule for 2019 by releasing episodes on a monthly basis on the first Friday of every month. See what else I am up to on Twitter , Instagram , Facebook and <a href="h
Fri, December 07, 2018
#95 Kieger Family on Familial Adenomatous Polyposis
Author Laura Kieger and her son, Dr. Alexander Kieger, share their family’s courageous, century-long struggle with a rare genetic cancer syndrome, Familial Adenomatous Polyposis. Familial adenomatous polyposis is a rare, genetic cancer predisposition syndrome caused by a deletion mutation in the APC gene on chromosome 5. By the age of 40, nearly 99% of untreated patients will develop cancer. This is the dark shadow that has lingered over their family since at least 1911, when Mary Regan Baker was seen at Mayo Clinic in Rochester, Minnesota for symptoms of a disorder that would become commonplace in her descendants. Through deeply touching personal stories of love, heartbreak, and hope, Laura’s book, Summer’s Complaint , explores the meaning of family and how tragic loss leads to the remaking of life in the face of a rare genetic mutation. Laura obtained a Bachelor of Arts degree from the University of Minnesota (Twin Cities) and a Master’s degree in Human Development from St. Mary’s University. Dr. Alexander Kieger is a Vascular and Interventional Radiologist at Vascular Institute of Virginia. He graduated from Drake University with a Bachelor of Arts degree in Biochemistry and Cell and Molecular Biology. He obtained his Doctor of Medicine from Northwestern University’s The Feinberg School of Medicine. Enter the GIVEAWAY on Twitter, Facebook, LinkedIn and Instagram to WIN 1 of 10 signed copies of Summer’s Complaint. The giveaway ends on December 14 at midnight eastern time, and winners will be randomly selected. To be eligible for entry you must have a US shipping address. You can enter giveaways on all social media networks, however a maximum of one copy will be awarded to each person. You can also buy the book directly on Amazon . Learn more about the Keiger family on Laura’s website . Stay updated by following Laura on Twitter and Dr. Alexander Kieger on Twitter and Instagram . Stay tuned for the next new episode of DNA Today on December 21st, I interview the CEO/President of Backpack Health , Jim Cavan. Backpack Health is a mobile and cloud-based app that helps people with chronic, serious and rare health concerns better manage their health journeys. New episodes are released on the first and third Fridays of the month. Ca
Fri, November 16, 2018
#94 Legend of Sumeria: A Genetics Graphic Novel
Dr. Biju Parekkadan is a Co-Creator and Scientific Director of the hard science graphic novel, Legend of Sumeria . He is a Professor of Biomedical Engineering with a research lab that specializes in cell and genetic engineering. His discoveries have been published in prestigious journals with patented inventions that have led to the foundation of several companies. He received his bachelor’s degree from Rutgers University and a doctorate from the Harvard-MIT Division of Health Sciences and Technology. In 2012, he was recognized by President Obama with an Early Career Award for Scientists and Engineers, the highest honor bestowed upon young researchers in the country. Dr. Parekkadan’s daily work in biotechnology research and education provides a unique perspective in the creation of the viable science behind Legend of Sumeria. This Episode We Discuss: The Premise of Legend of Sumeria Inspiration to Start the Graphic Novel Autoimmunity on the Molecular/Genetic Level Conveying Scientific Concepts The Current and Future Science Behind Legend of Sumeria Genetic Privacy Future of Gene Therapy Bioethical Issues Raised in Legend of Sumeria Team Behind the Graphic Novel Be sure to check out the graphic novel on their stunning website . Follow them on Twitter and Instagram . Don’t forget to enter the giveaway on their Instagram by commenting on the latest picture what you found interesting on this episode. The first five to follow and comment will win a complementary copy of Legend of Sumeria! Stay tuned for the next new episode of DNA Today in two weeks. The date to be determined as the normal release date overlaps with the National Society of Genetic Counselors Annual Conference. New episodes are typically released on the first and third Fridays of the month. Can’t wait? There are over 90 other episodes to explore in the meantime. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to Kira at info@DNApodcast.com .
Fri, November 02, 2018
#93 Team Telomere Interview
Members from Team Telomere (formerly DC Outreach), a community for telomere biology disorders join me for this episode. This panel includes patient advocate Katie Stevens, Dr. Sharen Savage, and Dr. Suneet Agarwal. They provide information and support services to families worldwide who are affected by these disorders, encourage the medical community’s research in finding causes and effective treatments, and facilitate improved diagnosis by educating medical providers. Katie Stevens is the Executive Director of Team Telomere. Her oldest child, Riley, is affected by a telomere disorder. Katie’s goal is to be an advocate and resource. She is also a member of Global Genes Foundation Alliance Advisory Council and a NORD member leader. Dr. Sharon Savage is the Chief of the Clinical Genetics Branch in the Division of Cancer Epidemiology and Genetics at the National Cancer Institute (NCI). She leads clinical, genetic, and epidemiologic studies of individuals and families at high risk of cancer. Dr. Savage’s research program in telomere molecular epidemiology incorporates population-based studies of telomere length and disease with genetic studies of telomere biology. She serves as a Medical Advisor for Team Telomere. Dr. Suneet Agarwal completed his M.D. and Ph.D. training at Harvard Medical School. He is currently an Assistant Professor in Pediatrics at Harvard Medical School, Principal Faculty at the Harvard Stem Cell Institute and Harvard Initiative in RNA Medicine, and Staff Physician in Hematopoietic Cell Transplantation at the Dana-Farber / Boston Children’s Cancer and Blood Disorders Center. Dr. Agarwal's research and clinical work is focused on the mechanisms and treatment of genetic blood disorders. He leads a multi-center bone marrow transplant clinical trial for dyskeratosis congenita, and his lab is working on new therapeutic approaches for telomere diseases. He also serves as a Medical Advisor for Team Telomere. This Episode We Discuss Katie’s Son’s Diagnostic Journey Dyskeratosis Congenita and Telomere Biology Disorder Prevalence Symptoms Age of Onset Associated Genes Diagnosis Process Treatments Latest Research How Team Telomere Helps Affected Families Becoming a Bone Marrow Donor > BeTheMatch.org Stay tuned for the next new episode of DNA Today on November 2nd, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are over 90 episodes to explore in the meantime. See what else I am up to on Twitter , Instagram , Facebook and <a href="https://itunes.a
Fri, October 19, 2018
Dr. Erin Young on Pain Genetics
Dr. Erin Young discusses the role genetics play in pain susceptibilities. She is an Assistant Professor of both the School of Nursing and Genetics and Genomic Sciences at the University of Connecticut. Her career has been focused on studying genetic contributions to pain susceptibility, for which she has published numerous papers sharing her findings. She received her BA at Wesleyan College, and her MA and PhD at Kent State University. She also completed two postdoctoral fellowships, at Texas A&M University and the University of Pittsburgh Center for Pain Research. This Episode We Discuss The Role Genetics Plays in our Experience of Pain Why People have Differences in Pain Responses Genes and Pathways Involved in Pain Environment Factors Affecting Pain Susceptibility Somatic vs. Visceral Pain Behaviors Pain Mechanisms Behind Inflammatory Bowel Disease (IBD) Animals Models Used and Translating Findings to Human Pain Opportunities for Integrating Genetic Analysis into Precision Healthcare Initiatives To learn more about Dr. Erin Young, check out her profile on UCONN’s InCHIP and School of Nursing website. Dive more into her research explore painresearch.uconn.edu and read one of her publications on the topics we discussed, “ Genetic Basis of Pain Variability: Recent Advances ”. To stay updated with Dr. Young, check out her LinkedIn and Twitter profiles. Stay tuned for the next new episode of DNA Today on October 5th, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 90 other episodes to explore in the meantime. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to Kira at info@DNApodcast.com .
Fri, October 05, 2018
#91 Ellen Matloff on Direct-To-Consumer Genetic Testing
Ellen Matloff is the President and CEO of My Gene Counsel . Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine. Ellen has authored more than 50 scientific publications in the field, is an established educator, lecturer and media spokesperson and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plaintiff in the 2013 BRCA gene patent case that went before the Supreme Court . This decision has led to drastically lower prices of genetic testing, making it possible for more patients to afford this technology. Ellen is a Forbes.com contributor in the area of genetic counseling, testing, and digital health. As genetic testing became more common and also more complex, she has served as the senior author on several publications since 2010, all documenting errors in the interpretation of genetic test results, from all over the US and Canada. From these experiences, Ellen created My Gene Counsel and its associated digital tools that can be used in parallel with genetic testing to help ensure that results are used accurately and effectively. These tools are scalable, affordable, are available to the consumer immediately, and on their own device, and - importantly - when your genetic test results are reclassified, or medical management recommendations change, you receive a text message or email. Disclaimer, I (host Kira Dineen) also work for Ellen at My Gene Counsel as the Communications Lead. On This Episode We Discuss: Defining direct-to-consumer (DTC) tests Types are available to consumers Difference between medical grade and DTC genetic tests Accuracy of DTC genetic tests What to know before choosing a DTC test Examples of when a DTC test may be more appropriate than a medical grade test and vice versa Why healthcare providers can’t afford to ignore DTC anymore Potential implications of sending a sample to a DTC company Benefits of signing up for My Gene Counsel Check out My Gene Counsel’s website , Twitter , Facebook and LinkedIn pages for more information. Stay tuned for the next new episode of DNA Today on October 19th. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter , Instagram , <a
Fri, September 21, 2018
#90 Erica Ramos on NSGC
Erica Ramos is the 2018 President of the National Society of Genetic Counselors (NSGC) . She builds products, programs and strategy in the genomics and genetic counseling arenas with expertise in rare disease and predictive genome sequencing. Erica is currently director and head of Clinical & Business Development for Geisinger National Precision Health . This Episode We Discuss: Elevator Pitch of Genetic Counseling Ramos’ Career Background Goal of NSGC Ramos’ role as President of NSGC Biggest Challenges in the Genetic Counseling Field 2018 NSGC Professional Status Survey Executive Summary Available to Public 94% of GCs who took part in NSGC’s 2018 professional status survey reported being satisfied with the profession. An average full-time GC earns a salary of $88,000 USD. There are over 4,600 certified GCs in North America, this is an increase of 95% compared to the number just 10 years ago in 2008. There are 43 accredited graduate level training programs in North America. Growth rate of the career between 2016-2026 is 29%, the average for all occupations is 7%. 2017 NSGC Member Benefits, Needs and Satisfaction Survey Annual NSGC Conference, November 2018 in Atlanta, (See you there!) Resources NSGC Provides FindAGeneticCounselor.com AboutGeneticCounselors.com Genetic Counselor and You Webinar Series NSGC Podcast Series: Leading Voices in Genetic Counseling NSGC Digital Ambassadors (aka The Gene Pool) Twitter List with all of us listed For updates from Erica Ramos, follow her on Twitter . And explore some of the resources above that NSGC provides the public. Stay tuned for the next new episode of DNA Today on October 5th, 2018. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 89 other episodes to explore in the meantime. See what else I am up to on Twitter , Instagram , Facebook and <a href="https://itunes.ap
Fri, September 07, 2018
#89 Dr. Andrew Ury on Electronic Health Records
Dr. Andrew Ury is the CEO and Founder of ActX , one of the leading companies in electronic health record integrated genomic decision support. He previously founded and was CEO of the first commercial electronic medical record company, Practice Partner . He is also the co-founder of one of the leading practice-based research networks, PPrNet . Dr. Ury helped found and was twice the vice-chair of the Electronic Health Record Assoc (EHRA). He is a graduate of Stanford Medical School. This Episode We Discuss: Definition of Electronic Health Records (EHRs) EHRs History, Evolution and Future Dr. Ury’s Perspective as a Founder of the Technology Current EHR Methods and Systems ActX’s Role in Integrating EHRs in Genomic Decision Support Direct-To-Consumer (DTC) Genetic Testing Focused vs Broad Screening FDA Regulation on DTC Genetic Testing Pharmacogenomics and Testing Future Predictions of Integrated Personalized Medicine and Patients’ Role Want to learn more about ActX? Check out their website , Facebook page , and Twitter account . Stay tuned for the next new episode of DNA Today on September 21st. New episodes are released on the first and third Fridays of the month. Can’t wait? There are 88 other episodes to explore in the meantime. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com.
Fri, August 17, 2018
#88 Ira Pastor on Regeneration
Ira S. Pastor is the CEO of Bioquark, a life sciences company, developing proprietary combinatorial biologics for the regeneration and repair of human organs and tissues. Ira has over 30 years of pharmaceutical experience. He serves as a board member at multiple companies and organizations including RengerAge, the Reanima Project, The World Academy of Medical Science and the World Economic Forum’s Human Enhancement. This Episode We Discuss… Regeneration and repair of human organs and tissues Natural regenerative capability of humans Effect of age Potential role of telomerase Bioquark’s area of focus in regeneration Conditions that could potentially benefit from regeneration research Genetics role in regeneration Research on animals regenerative abilities Growing organs outside the human body and its impact on the organ donor system Somatic reversion and how it differs from other gene therapies Learn more on Bioquark’s website and stay updated by following them on Facebook . Stay tuned for the next new episode of DNA Today on September 7th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com .
Fri, August 03, 2018
#87 Genetic Counseling Grad School Apps
A panel of four incoming genetic counseling graduate schools discuss the application process. This is part one of two podcasts, discussing how to gather the experience and classes to have a competitive application. Early next year (2019) we will also release a follow up episode focusing on the second part of the application process: interviews, ranking and matching. We also surveyed over 50 incoming genetic counseling students (enrolling Fall 2018) who went through the last application process, which was also the first time the Match System was used. Their feedback has been summarized on the blog post with this episode on DNApodcast.com. We hope prospective and applying students find this summary and episode helpful! The Incoming Genetic Counseling Student Panel Kira Dineen hosts DNA Today: A Genetics Podcast (and radio show), which was founded in 2012 and features over 85 episodes interviewing genetic counselors, patient advocates and other genetic experts. The show was nominated in the 2015 and 2016 Podcast Awards. She is the Communications Lead at My Gene Counsel, a digital genetic counseling company. Kira is also a member of National Society of Genetic Counselors’ Digital Ambassador Program (aka #NSGCGenePool). She received her Bachelor's of Science degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at the University of Connecticut. Kira is excited to be in Sarah Lawrence College’s Genetic Counseling Class of 2020. Brynna Nguyenton will be a first year genetic counseling student at The Keck Graduate Institute. She earned her BS in Biology with a minor in Cognitive and Behavioral Neuroscience from San Diego State University in 2016. Brynna’s professional interests include accessible healthcare, neuropsychiatric and cancer genetics, and promoting scientific literacy and education in the community. She is also the lead staff contributor of the genetic counseling blog, Maps and Genes. Outside of genetic counseling, she enjoys thrift shopping, traveling and trying new foods, and spending time outdoors with her Husky/Shepherd puppy, Kenobi. Katie Church is a member of the 2020 Genetic Counseling class from The University of Alabama at Birmingham. Originally from Colorado, in 2017 she graduated with a Bachelors of Science in Biology with minors in Psychology and Spanish from the University of Nebraska-Lincoln. Throughout undergrad she spent time volunteering with adaptive recreation and a domestic violence hotline, helping with research, shadowing various genetic counselors, and staying active in her sorority. Post graduation she worked as a research assistant in a fly genetics lab and a high school cheer coach. Brianna Van den Adel was born and raised in the small northern town of Kitimat, B.C., Canada. She received her Bachelor of Science in Biochemistry & Molecular Biology and Psychology at The University of Northern British Columbia in 2017. With her recent acceptance into the Master
Fri, July 20, 2018
#86 Dr. Michael Fossel on the Telomere Theory of Aging
Dr. Michael Fossel is the world’s foremost expert on the clinical use of telomerase for age-related diseases. In 1996, he wrote the first book on the telomerase theory of aging, Reversing Human Aging , and has published the sole medical textbook on the topic. Most recently he published The Telomerase Revolution which was named one of the five best science books of the year by the Wall Street Journal. Dr. Fossel earned his PhD and MD from Stanford University, where he taught neurobiology and research methods. He has lectured at the National Institutes of Health and the Smithsonian Institution and has appeared on Good Morning America, CNN, BBC, and NPR among others. He is currently working to bring telomerase to human trials for Alzheimer's disease with his company, Telocyte. On This Episode We Discuss… Telomere theory of aging Age related diseases telomerase potentially prevent/treat Telomerase product effects on cancer prevention Common misconceptions of aging Changing public perspective on the potential of reversing aging Role of family history in longevity Recent aging/telomerase research CRISPR’s use with telomerase Scientifically validation of current anti-aging products Learn more on Michael Fossel’s website . I also recommend his book, The Telomerase Revolution . Stay tuned for the next new episode of DNA Today on August 3rd, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com .
Fri, July 06, 2018
#85 Sarah McAnulty on Squids
Sarah McAnulty is a squid biologist and science communicator. She founded Skype A Scientist , matching classrooms with scientists for QnA sessions. Sarah is also a Ph.D. Candidate and Scientist at the University of Connecticut. She studies squids and their symbiosis with bioluminescent bacteria. On This Episode We Discuss: Skype A Scientist Effect ways to communicate science Differences between squid species, which ones Sarah works with Squid research goals The symbiosis relationship between the squid and bacteria Squid’s blood, microbiome, and immune system Sarah’s inspiration to pursue a squid research career Advice/resources for students interested research Sarah is very active on Twitter and Instagram providing squid fun facts, videos, pictures and really everything cephalopod related. She also has a Tumblr , Youtube page and website for even more information. Stay tuned for the next new episode of DNA Today on July 20th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com.
Fri, June 15, 2018
#84 CRISPR Bioethics
In this podcast discussion we peek into the world projected by J.D. Lasica in his new genetics thriller novel, Biohack. We consider and debate a few ethical issues that arise in the book focusing on the potential implications CRISPR has for our future. J. D. Lasica is an author, Silicon Valley entrepreneur and public speaker. He spoke at the United Nations in 2012 about how to use social media to combat global poverty, and he has given talks on four continents. His new book Biohack is a high-tech genetics thriller. Dr. Katie Hasson, is the Program Director on Genetic Justice at the Center for Genetics and Society. She was an assistant professor of sociology and gender studies at the University of Southern California. She has researched and written on reproductive technologies and women’s health. On This Episode We Discuss: The genetics thriller novel Biohack and the bioethical issues it raises Potential scientific advances with CRISPR technology The bioethical implications of those advancements Which countries these advances are most likely to occur The bioethical debate change between PGD embryo selection and CRISPR edited embryo, prior to in vitro fertilization Potential restrictions on which genes can be manipulated, disease related vs physical traits Want to delve further into the bioethics of CRISPR? Check out this article from guest Dr. Katie Hasson about designer DNA not being just for designer babies. Another interesting article that complements our discussion in the podcast is Nathaniel Comfort’s “ Can We Cure Genetic Diseases Without Slipping Into Eugenics? ” Intrigued by our conversation about a child having three biological parents (this is not science fiction) Leah Lowthrop wrote articles about the impact in the fertility industry and the slippery slope this technique could become . Genetics and Society has many more articles to explore! If you are one of the first ten people to sign up for JD’s J.D.’s Best of Indie email list you will receive a free copy of the “Biohack” ebook plus the Hacked Celebrity Files, a full-color PDF outlining Hollywood celebrities and historical figures targeted by the biotech company in the novel. Can’t wait to see if you have won? Buy <a href="https://www.amazon.com/Biohack-high-tech-sci-fi-thriller-Gender/dp/1982913894/re
Fri, June 01, 2018
#83 Alex Ille on Alzheimer's Disease
Alexander Ille, the Director of the Genome Cure Organization, joins me on this podcast episode. He received a Bachelors of Science from University of Waterloo and is currently a graduate student at D'Youville College, actively participating in genetic research. He also wrote a book, “ The Genome Cure: The Future of Medicine for Alzheimer's, Cancer, Diabetes and more ”. Alex founded the Genome Cure Organization in 2016 and is enthusiastic about genomic research and its medical implications. This mission of his organization is to push towards finding cures for a multitude of diseases through the advancement of gene therapy and gene editing. On This Episode We Discuss: Hereditary component of Alzheimer's Disease Prevalence of Alzheimer’s Disease in the populations and how many people affected Treatment options for people with Alzheimer’s Disease Genome Cure Organization’s efforts to make a difference in the Alzheimer’s Disease Recent research published about Alzheimer's The process of researching new treatments and a potential cure Length of phases Funding required Key players/institutions in the research Current clinical trials Ways the public can get involved Learn more about Genome Cure Organization on their website and Instagram . Stay tuned for the next new episode of DNA Today on June 15th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com.
Fri, May 18, 2018
#82 Smith Family Clinic on Whole Genome Sequencing
A panel of guest from Smith Family Clinic for Genomic Medicine in Huntsville, Alabama joins me for this episode exploring the power of whole genome sequencing for patients with undiagnosed diseases. On This Episode We Discuss: Whole genome sequencing (WGS) vs exome sequencing Qualifications for patient to receive WGS Next steps after a “negative WGS” Value of WGS for patients not seeking a diagnosis Hero fund to help families afford testing Predictions of the future use of WGS Genetic counselors role at the clinic Approach to explain testing to patients Next steps for an untreatable/incurable diagnosis Interesting case studies Incidental and secondary findings from WGS Dr. David Bick is a board-certified clinical geneticist and clinical molecular geneticist with over 20 years of clinical experience. He sees patients and families who are struggling with a rare undiagnosed or misdiagnosed disease, and are considering genetic testing - specifically, whole genome sequencing. Carol Aiken is a certified medical practice administrator with the Professional Association of Healthcare Office Management (PAHCOM). She has over 30 years of medical practice administration experience across multiple physician practice specialties and hospitals. Meagan Cochran is a board-certified genetic counselor with clinical experience in pediatrics, adult medicine and genomics. As one of the genetic counselors at Smith Family Clinic she works with patients and families to understand the role of genomic medicine in healthcare and help them to incorporate this new information into their decision making processes. Follow Smith Family Clinic on Twitter , Facebook , Instagram , and visit their website for more information. Stay tuned for the next new episode of DNA Today. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter, Instagram, Facebook and iTunes. Questions/inquiries can be sent to info@DNApodcast.com.
Fri, May 04, 2018
#81 Irina Brooke on BRCA2
Irina Brooke joins me for this podcast episode. She is an patient advocate with the mission of supporting people with BRCA mutations and educating the public on this testing and how it can empower healthcare decisions. On This Episode We Discuss… Deciding to pursue genetic testing and results Qualifications for having a strong family history of ovarian, breast and/or prostate cancer The risk of passing on a BRCA mutation to a child Males inheriting gene mutations Genetic counseling process and experience Cancer development risk level for people who have BRCA gene mutations Beyond BRCA, additional gene mutations that increases one’s risk for developing cancer Options for preventing and monitoring cancer Recovering from breast cancer Support systems available Getting involved in the patient advocacy community BRCA community terms (previvor, mutantvivor, etc.) Advice to those with family history of cancer and those who have a BRCA mutation Check out Irina’s Instagram , Facebook page , and Facebook group for women in the hereditary breast and ovarian cancer community with mutations (BRCA etc.). She also shares her journey on her website’s blog . Stay tuned for the next new episode of DNA Today on May 18th, 2018. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com .
Fri, April 20, 2018
#80 Rafi Mendelsohn on DNA Quest for Adoptees
Rafi Mendelsohn is the Director of Public Relations and Social Media at MyHeritage . MyHeritage is the largest family history and DNA company that helps consumers to discover their ethnic origins and find new relatives. Their new pro bono initiative, DNA Quest , is currently helping adoptees and their birth families reunite through genetic testing, which we explore in this podcast episode. This offer is only available through the end of April 2018! Apply today for one of 15,000 free DNA kits. Learn more on MyHeritage's blog . On This Episode We Discuss: -How the project started -Who is eligible and how to apply for this free testing -What is required for the testing -The timeline of the project -The number of people who find their biological relatives through MyHeritage -Information provided in the MyHeritage results -New updates and innovations from My Heritage Don’t forget that April 25th is DNA Day! Check out my episode all about the history of the day and other fun facts. Stay tuned for the next new episode of DNA Today on May 4th, 2018 where I will be interviewing patient advocate Irina Brook about her BRCA2 mutation and hereditary breast cancer. New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com.
Fri, April 06, 2018
#79 Bibaswan Ghoshal on the Human Microbiome
Joining me on this episode is Bibaswan Ghoshal. He is a Senior Bioinformatician at the Lunenfeld Tanenbaum Research Institute of Mount Sinai Health System in Toronto. He has his Master’s of Science in Medicine and finishing his PhD in Bioinformatics, Animal Microbiome and Agriculture from the University of Alberta. On this episode we discuss… The number of microbes in inside us and how they help us Factors/technology that impacted the start of this new field Differences between studying the human microbiome and genome Techniques/technologies used to study the microbiome Human Microbiome Project Healthy microbiomes Factors that affect microbiomes Variations between people’s microbiomes Microbiome research Role of a bioinformatics analyst in microbiome research Learn more about the microbiome through the University of Utah’s free interactive modules . You can follow Bibaswan on Twitter @bibaswanghoshal and read his blog at worldofbiba.wordpress.com . Check out the books Bibaswan recommends during the episode: Brain Maker by Dr. David Perlmutter and I Contain Multitudes by Dr. Ed Yong . Stay tuned for the next new episode of DNA Today on April 20th, 2018 where I will be interviewing Rafi Mendelsohn about a free DNA test for adoptees and biological families to be reunited. It's offered through April through MyHeritage's DNA Quest . New episodes are released on the first and third Fridays of the month. See what else I am up to on Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DNApodcast.com
Fri, March 16, 2018
#78 Pawel Buczkowicz on Gene42
My guest joining me for this podcast episode is Dr. Pawel Buczkowicz . He is the Chief Medical Affairs Officer and the VP of Business Development at Gene42 . He received his PhD in cancer genetics and molecular pathology from the University of Toronto. His research has been published in leading medical journals such as Nature Genetics. His discovery of novel mutations in human cancers and their associated clinical correlates, have led to a new World Health Organization classification that was implemented for paediatric gliomas in early 2016. Dr. Buczkowicz is passionate about improving healthcare experiences for both the patient and doctor and believes smart and efficient software will revolutionize the way medicine is practiced. On this episode, we discuss… Gene42’s Products: PhenoTips, PhenoTips Genomics, and OncoTips How clinicians/researchers use electronic health records Future of electronic health records in healthcare Importance of open-source databases Research on Diffuse Intrinsic Pontine Glioma (DIPG) You can follow Dr. Pawel Buczkowicz ( @pbuczkowicz ) and Gene42 ( @gene42inc ) on Twitter. Stay tuned for the next new episode of DNA Today on April 6th, 2018 where I will be discussing the human microbiome with Bibaswan Ghoshal! New episode are released on the first and third Fridays of the month. See what else I am up to on Twitter (@DNApodcast) , Instagram (@DNAradio), Facebook (@DNApodcast) and iTunes . Questions/inquiries can be sent to info@DNApodcast.com .
Fri, March 02, 2018
#77 Rare Disease Day 2018
February 28th, 2018 was Rare Disease Day! Rare Disease Day is an opportunity to raise awareness for 7,000+ rare diseases and the 30 million Americans who are affected by a rare disease(s). There were events held worldwide to raise awareness. The theme for this year's Rare Disease Day is "Research" and the important role that patients play in gaining an understanding of rare diseases and developing innovative treatments or cures. This year's slogan is "Patients are not only subjects but also proactive actors in research." This episode features a couple interviews with presenters, who I caught up with at the end of the Rare Disease Day event in Hartford, CT in the Legislative Office Building. This specific event is one I have attended for a few years and provides an opportunity for patients, caregivers, medical professionals and industry representatives to come together and educate elected officials about rare diseases, and what it’s like to live with or care for someone with a rare disease in the state. A main focus of the event was newborn screening, including the addition of Pompe Disease and Mucopolysaccharidosis Type 1 (MPS1) for Connecticut. Connecticut covers over 60 diseases, while most other states only cover ~40 diseases. A young man named Hunter Pageau spoke about his extremely rare disease, SMARD, Spinal Muscular Atrophy with Respiratory Distress. SMARD is an aggressive respiratory/neuromuscular disease causing paralysis and inability for patients to breathe on their own. And 1 of only 12 people in the United States, and of 80 worldwide, with SMARD. Being the trailblazer he is, he started YES, the young empowerment society for kids. He is a true inspiration and leader! Going with the theme of this year’s Rare Disease Day, researchers shared how vital funding is to their research and the cascade effect initial funding can have. Stormy Chamberlain, PhD, a researcher at UCONN who focuses on Angelman Syndrome, explained how the Connecticut Stem Cell Research Fund led to NIH funding and partnerships with pharmaceutical companies such as Alexion. Presenting alongside her was Jim Kubicza, a father of a child who has Angelman Syndrome. As a fierce patient advocate, he joined the Angelman Syndrome Foundation to help raise some of this research money. He also shared some aspects of being the father of a child with a rare disease, including the burden of expensive seizure medication, full-time supervision of his son, and fighting for basic needs for his son at school. He shared more in our interview in this episode. There was also a family with a daughter who has Dravet Syndrome . Beth Fox shared about her daughter's 250 unconscious seizures, despite trying multiple different medications, and their battl
Fri, February 16, 2018
#76 Amy Sturm on Cardiac Genetic Counseling
To raise awareness for February Heart Month, I am joined by Amy Sturm, a cardiovascular genetic counselor. She has 15 years of experience in cardiovascular genetics, personalized genomics, research, and education. Amy is the Director of Cardiovascular Genomic Counseling and Professor at Geisinger Health System's Genomic Medicine Institute . There she provides leadership for the scaling up of genomic counseling efforts in the MyCode Community Health Initiative . She serves as the President-elect and the Cardiovascular Genetics Expert at National Society of Genetic Counselors (NSGC) . Amy also works with The Familial Hypercholesterolemia Foundation and The Sudden Arrhythmia Death Syndromes (SADS) Foundation on their important advocacy work, research, and medical education programs. On this episode, we discuss….. Roles of a cardiovascular genetic counselor Inherited cardiovascular diseases Familial Hypercholesterolemia Long QT Syndrome Red flags for an inherited cardiovascular disorder in a family history Genetic testing including the cascade screening method Preventative treatments for patients with a positive testing Importance of testing children Notifying at-risk relatives of patients To learn more from Amy, follow her on Twitter and read a few of her blog posts below: Am I at Risk for Heart Disease? Familial Hypercholesterolemia: The Common, Inherited Cause of Heart Disease Rarely Talked About Curious about the patient perspective in cardiac genetic testing process with a genetic counselor? One of her patients also wrote about his genetic testing experience guided by Amy . Stay updated on new episodes and activities of DNA Today via Twitter , Instagram , Facebook and iTunes . Questions/inquiries can be sent to info@DN
Fri, February 02, 2018
#75 Eden Lord on My City Med
We are kicking off Rare Disease Month, which leads up to Rare Disease Day (February 28th, 2018). My guest is Eden Lord, Co-Founder and CEO of My City Med . The company is an online health and medical resource site that allows patients to search for a doctor and read reviews, and also connect with non-profit resources and online community support groups. On the show, Eden explains how both patients and physicians can benefit from My City Med’s services and resources. She also provides insight into creating MobiMedQR.com a service that allows patients/caregivers to create a medical profile accessible through QR codes. My City Med and MobiMedQR were inspired by her own family’s needs to navigate the healthcare system. Eden is a mom to kids with rare diseases and during the episode, she shares her role as a caregiver and the journey her family has been through. She is also an advocate pursuing legislation to advance rare disease research. Attend a Rare Disease Day 2018 event! If you are in Connecticut, join me at the two events. The first is Quinnipiac University’s event on their North Haven Campus on 2/27 at 1 pm or an event in Hartford on 2/28 at 8:30 am in the Legislative Office Building. Not in Connecticut? Find a local Rare Disease Day event here .
Fri, January 19, 2018
#74 Antonio Maltese on Huntington's Disease
After having a family history of Huntington's Disease, Antonio Maltese was pre-symptomatically genetically diagnosed with the disease himself. This diagnosis has motivated Antonio to become a fierce patient advocate with big plans to change the future of people with Huntington’s disease. Huntington’s Disease is progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability. This neurodegenerative disease is caused by an excess of CAG repeats in the Huntingtin gene (HTT) . Unaffected people have this DNA sequence repeated 10 to 35 times. Those that may be affected have 35-39 repeats and those with over 40 repeats will develop Huntington’s Disease. This disease is inherited in an autosomal dominant pattern, meaning if a parent has Huntington’s Disease their child has a 50% chance of inheriting the disease. Antonio shares about his paternal grandmother who had Huntington's Disease and why he decided to pursue genetic testing. The biggest breakthrough in neurodegenerative diseases for 50 years recently occurred, 46 patients had their Huntington genes silenced at the University College London as part of a research study. Antonio I and discuss the impact this could have on Huntington's Disease and other neurodegenerative diseases. Antonio shares the resources he has benefited from including HDBuzz and the blogs where he has collected his research for others: huntingtonsinitiative.blogspot.com and chuffed.org . Don't forget to follow the show on Instagram , Twitter , and Facebook !
Fri, January 05, 2018
#73 Jenna Guiltinan on Laboratory Genetic Counseling
Jenna Guiltinan is a laboratory genetic counselor. She received her Master’s in Genetic Counseling from California State University Stanislaus in 2013. Jenna worked at Ambry Genetics as a reporting genetic counselor for over four years. However, she recently left her position at Ambry to pursue a new laboratory position. As a laboratory genetic counselor, she helps interpret and report genetic test results. In this episode we discuss a subfield of genetic counseling, working in the laboratory. Jenna shares how her position differs from a “traditional” genetic counselor who meets directly with patients. She also provides insight on why more genetic counselors are pursuing careers in the laboratory setting. Jenna explains the types of tests run to identify genetic variants and what areas of healthcare utilizes these tests. The data produced from the tests needs to be interpreted, the genetic variants need to be classified. Jenna offers her insight on how much research is needed to support a classification and what a patient can do with this information. Variants of Unknown Significance (VUS) can pose a challenge when interpreting this data. If you would like to hear/read more from Jenna, check out her Twitter and LinkedIn page . She also welcomes student contact and can be found on FindAGeneticCounselor.com along with many other genetic counselors for both students and patients.
Fri, December 15, 2017
#72 Megan Maxwell on Genomes2People
Megan Maxwell explains her role as a research genetic counselor. She has experience in clinical, laboratory, sales, educational, and research settings. She is currently a Genetic Counselor Project Manager for The MilSeq Project at Lackland Air Force Base in San Antonio, TX. This research is conducted under the Genomes2People (G2P) Research Program at Brigham and Women’s Hospital , Harvard Medical School , which is focused on the medical, behavioral, and economic implications of translational genomics and personalized genomic medicine, and the Air Force Personalized Medicine Program . Megan earned her BS in Human Biology from University of California, San Diego (UCSD) and her MS in Genetic Counseling from California State University, Northridge (CSUN). If you are interested in finding a genetic counselor as a patient or student, go to findageneticcounselor.com or aboutgeneticcounselor.com to learn more about the field. Stay updated with Megan on Twitter and LinkedIn . And don’t forget to follow my new account on Instagram, @DNAradio .
Fri, December 01, 2017
#71 Eleanor Griffith on Genetic Counseling Grad School Applications
Eleanor Griffith, MS, CGC is a board certified genetic counselor and the founder of Grey Genetics , a genetics counseling and consulting company. Her clinical experience includes both prenatal and cancer genetics, in both public and private academic hospital settings. She is the Treasurer of the NYS Genetics Task Force and a member of the Admissions Committee for The Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College , where she also received her M.S. in Human Genetics We discussed how students can have a competitive application for genetic counseling graduate schools. Eleanor shares her insight on the components of an application including prerequisites, personal statements, experiences (genetic counseling job shadowing, advocacy, laboratory work, counseling), and letters of recommendation. She provides an overview of what a typical interview day looks like at Sarah Lawrence and more information on what the Sarah Lawrence genetic counseling program specifically provides students. She also talks about her background as an English major, why she pursued genetic counseling and continues to love the profession. Here’s a complete list of all the accredited genetic counseling graduate programs in North America. Students can also find genetic counselors to job shadow and interview at FindAGeneticCounselor.com . Stay updated on Eleanor’s private practice on Instagram , Twitter and Facebook . And don’t forget to follow my new account on Instagram, @DNAradio .
Fri, November 17, 2017
#70 Heather Z on Cowden Syndrome
Heather Z is a patient advocate with two rare brain tumors and a hereditary cancer syndrome called Cowden Syndrome. On this episode she shares her journey from first symptoms, to genetic testing and eventually diagnoses and surgeries. Heather has a PTEN mutation which officially diagnosed with Cowden Syndrome. She offers insight on what she has learned through these challenges including how to helps others with hereditary cancer syndromes and rare diseases. Hereditary cancer syndromes evaluate one's risk to develop certain cancer depending on what mutation they have. For Cowden Syndrome this includes cancer of the breast, thyroid and endometrium (lining of the uterus). Most people with Cowden Syndrome develop hamartomas. These are noncancerous growths found on the skin, mucous membranes (such as the lining of the mouth and nose), and intestines. If you would like to hear/read more from Heather, check out her GoFundMe, blog, Twitter and Instagram.
Thu, October 26, 2017
#69 Jackson Lab's Forum on Healthcare Innovation
“The Forum on Healthcare Innovation: Technology and the Future of Healthcare Delivery” was hosted by Jackson Laboratories in Farmington, CT on the UCONN Health campus. The conference was full of healthcare professionals and covered genetic testing (including direct-to-consumer), genomics, the microbiome, patient advocacy and healthcare technology. In this episode, I share highlights from some of the presentations including from Francis Collins, the NIH Director. Francis Collins, Director of National Institute for Health, shares that the NIH also stands for hope. Reasons for hope include uncovering life’s foundations, translating discovery into health and moving forward together. Collins gave an overview of the different projects ongoing at NIH, starting with the backstory of the Human Genome Project. A major aspect of the project that has impacted the future of research and healthcare was the data sharing. Every 24 hours, new data collected from the day was uploaded allowing researchers to start using the data in their own research. It would have taken years if the project had waited to release data when it was officially published. This idea of data sharing has increased collaboration between scientist, accelerating the rate of research and development. Collins also shared his excitement around CRISPR, the gene editing technology. From basic research to human trials. This is huge as people often say basic research is not worth the money, but every once in awhile something like this comes along and completely changes the field. CRISPS has already achieved the status of a revolution in medicine and biotechnology. Collins predicts it will cure the first molecular disease, Sickle Cell Disease. The current major NIH project is “All of Us” (formerly Precision Medicine Initiative). Beta launched in May 2017 with a full launch in Spring 2018 where it will ramp up to having over 100 locations. The purpose of the project to accelerate healthcare, specifically for individualized care. Enrolling one million participants is the goal. The term participants is key, as opposed to human subjects, as the patients are considered partners in this journey. Why now? One main reason is the insane drop in the cost of sequencing, in 2004 it costs $22 million to sequence a genome, now in 2017 the cost is $800. “We don’t have a healthcare system, it’s a sickcare system” Collins explained. The more data we can provide showing prevention is more effective than treatment will help us make this transition in our health care approach. Collins also commented on the exciting new field of microbiome research, studying the bacteria that live in and on us. Human Microbiome Project’s mission is to generate resources for comprehensive characterization of the microbiome. It started in 2008 and is now in it’s second phase. George Weinstock, professor at Jackson Laboratories, state there are 754 studies on clincialtrails.gov (as of 10/25/17) that list the microbiome. New genetic sequ
Fri, September 29, 2017
#68 Bo Bigelow on USP7-Related Disorders
Bo Bigelow made national news when he used Reddit and social media to find a diagnosis for the genetic disorder his daughter faces. Those same efforts led him to a researcher who is now investigating the disorder. Bo hosts another podcast “Stronger Every Day” and has written a book of the same name, as well as several novels. He co-founded Maine Rare. He was the State Leader for Rare Disease Day in Maine for NORD (the National Organization for Rare Disorders). He's also a lawyer. The film he produced, "Tess Is Not Alone: A USP7 Story" will be played during the Rare Disease Film Festival in Boston October 2rd through October 3rd. Learn more about USP7-Related Disorders on the Foundation for USP7-Related Disorders on their website. Keep up with Bo and his family by following @BoBigelow and @strongerpodcast on Twitter.
Fri, September 08, 2017
#67 Daniel DeFabio on Disorder: The Rare Disease Film Festival
Daniel DeFabio is co-director of Disorder: The Rare Disease Film Festival. This event is a first of its kind showcasing a myriad of films from around the world that address the challenges of life with a rare disease. The film festival has support from some of the leading organizations in rare disease advocacy -- NORD, Global Genes, The Mighty, RDUF and MassBio. The event is going to be in Boston, MA on October 2nd & 3rd, 2017. Daniel has also written about the rare disorder Menkes Disease for The Mighty. One of these stories won the 2015 Rare Patient Story Award from Global Genes. He made a 12 minute documentary on Menkes Syndrome narrated by Oscar nominee Mary McDonnell. In 2008 he founded the Ballston Spa Film Festival. He was a pioneer of original content online (now called web series) and co-wrote and co-produced the internet's first animated series. He has created videos and motion graphics for American Cinematographer, PBS, bio-techs, hospitals, TNT's “The Closer” and HBO's “Curb Your Enthusiasm”. To keep updated with Disorder: The Rare Disease Film Festival, like them on Facebook.
Fri, July 07, 2017
#66 Dr. Susan Capasso on Genetic Counseling
Dr. Susan Capasso is the Genetic Counseling Program Director at Bay Path University, a new online program graduate level program. She was previously the vice-president of academic affairs, dean of faculty and the chief academic officer of St. Vincent’s College. She received her B.A. at the University of Vermont, M.S. from Georgetown University, and Ed.D. from the University of Hartford. Dr. Capasso is also a licensed and certified genetic counselor and served as a Genetic Counselor at St. Vincent’s Medical Center. In this episode, we discuss aspects of genetic counseling and getting kids excited about STEM fields. Dr. Capasso shares her personal career path into genetic counseling and how this journey differs between genetic counselors. We discuss the skills required to be a genetic counselor and what roles and responsibilities they carry. The episode wraps up with recommendations and advice for those pursuing the field of genetic counseling.
Fri, June 16, 2017
#65 CRISPRed Imprinting Disorders
Over the weekend, geneticists, genetic counselors, professors, researchers and students gathered at the University of Connecticut to learn about a new genetic editing technology that has taken over labs and stolen headlines, CRISPR. UCONN hosted "The Impact of CRISPR on Imprinting Disorders" featuring presentations from Christopher Stoddard, Dr. Marc Lalande, Dr. Stormy Chamberlain, Dr. Michael O'Neill among others. Chris Stoddard, who operates the human genome editing core at UCONN Health, join me on the show to explain CRISPR's origin, how we adapted CRISPR to use it in the lab, and two different CRISPR methods (editing the genome and the epigenome). I highlight other research with CRISPR including to research autism spectrum disorder, Angelman Syndrome and Prader-Willi Syndrome.
Fri, March 10, 2017
#64 Dan Faszczyk on Kolgene
Dan Faszczyk is the Co-Founder and CEO of Kolgene, a platform connecting clinicians with genetic labs around the world. His company streamlines the process of looking for labs, communicating with them and ordering the tests. The demand for genetic testing is growing as more labs are performing a wider variety of tests. KolGene allows physicians access to the global supply of genetic tests while saving them time, money and improving patients’ care. This service enables physicians to offer their patients the most up to date tests available, while saving hours searching through lab’s websites to find them. Kolgene is for genetic tests as Kayak is for hotels; instead of searching for labs the clinicians post a request for a test and let labs extend unique, customized offers and have all those options appear in one screen. For years Dan held executive commercial positions in healthcare with a specialization in genetics. He worked with leading companies and labs from all over the world. His experience and insights led him to found KolGene. To stay updated on Kolgene's developments follow them on Facebook and LinkedIn; be sure to check out their on the app store or Google Play and website too!
Tue, February 28, 2017
#63 Rare Disease Day 2017
Today is Rare Disease Day! I attended the National Organization for Rare Disorders' (NORD) event in Hartford, Connecticut’s Legislative Building. I recap the event and feature two interviews, one with Michelle Cotton, a patient advocate and mom of a child with a rare disease. The other interview is with Representative Dave W. Yaccarino, who spoke to me about the legislation's impact on biotech and Rare Diseases. Some facts about Rare Diseases, 30 million Americans have a Rare Disease which means 1 in 10 people in America are affected. Over half of those with a Rare Disease are children, and about 30% will not survive past 5 years old (NIH). We are aware of over 7,000 rare diseases and continue to discover more every year. Today's event was to raise awareness of Rare Diseases to the public, but most of all to our state legislators as many decision on the state level have major impacts on those in the Rare Disease community. Speakers of the event mentioned in this episode include... Vanessa Proctor, the Executive Director of Global Governmental Affairs at Alexion Professor David Goldhamer, Associate Director of the UCONN Stem Cell Institute Gayle Temkin, Founder of Alyssa’s Angels Fund and mother of child with a glycogen storage disorder Dr. David Weinstein, Glycogen Storage Disorder Program at Connecticut Children’s Medical Center Michelle Cotton, a mother of child with a Fatty Oxidation Disorder (FOD) called SCADD (FODsupport.org) Madison Shaw, Founder of Maddie's Herd Dr. Mustafa Kokhura, Yale Genetics Fran Reed, CureGSD You can learn more about Bill HB6009, An Act to Create a Permanent Rare Disease Advisory Council. Check out DoYourShare.com, a supporting website featuring community stories, an opportunity for those living with a rare disease or those involved in the community to share their story, and ways to get involved in areas ranging from awareness and advocacy to research and donation. Please rate, review and subscribe in iTunes, here's a direct link to the podcast's listing.
Fri, February 03, 2017
#62 Cytogenetics Basics
Cytogenetics is the field genetics at a cellular level, which means looking at chromosomes (bundles of DNA). Clinical Cytogeneticist, Charlotte Keith, discusses the areas of testing; acquired and constitutional, which is broken down into prenatal and postnatal. She explains how balanced and unbalanced rearrangements work and talks about a case that explains the concept. Charlotte gives us an UK view of how genetic counseling is incorporated into their genetic testing process and just how complex “informed consent” is when it comes to genetic testing as incidental findings do happen. Direct-to-consumer testing becoming more popular and Charlotte adds in her opinion on these companies and the science behind them. Check out the website Charlotte recommends for understanding chromosome disorders, http://www.rarechromo.org, it has resources for countless syndromes with downloadable pdfs outlining information in laymen’s terms. She also mentions the Deciphering Developmental Disorders (DDD) project and the 100,000 Genomes Project. Charlotte Keith is a Clinical Cytogeneticist from Edinburgh, Scotland. She works for the South East Scotland Genetics Service, providing diagnostic and prognostic genetic testing for NHS (National Health Service) patients.
Fri, January 20, 2017
#61 Wes Wilson on Tumor Progression Epigenetics
Wesley Wilson discusses the epigenetic patterns in tumor progressing. He shares his expertise on pediatric cancer, how epigenetics differs between types of cancer, using epigenetics to diagnosis cancers and how treatment can differ depending on epigenetic patterns identified. Wes also gives an insider's view on the Hacking Health organization and how he contributes in his role. Wesley Wilson is a Canadian molecular biologist, whose work is focused on studying the epigenetics of tumor progression in pediatric brain cancers. He is also an ardent programmer and developer sitting on one of the organizing committees for Hacking Health. Wes founded the online science blog, MostlyScience.com and contributes to ScienceSeeker.org. His writings aim to demystify evidence based medicine.
Fri, January 06, 2017
#60 Dan Donovan on Onevoice
Dan Donovan is the Co-Founder and CEO of Onevoice, a rare disease community building software solution. Onevoice provides a powerful encouragement and knowledge platform for all rare disease stakeholders. It is an all-inclusive collaboration and encouragement space for Patients and Physicians and all the people involved in rare disease — welcoming all who participate in diagnosis, treatment, research, caregiving and advocacy. Onevoice is the first Encourage Media platform – featuring the “+care” button, Sentiment Palette and Encouragement Power. Dan has spent nearly 3 decades in the pharmaceutical industry on both the industry and service sides of the business – first with Pfizer then creating Envision Pharma, which was acquired by United BioSource Corporation. His introduction to the world of rare disease began in 2011 when he was appointed to the Board of Directors and later as Chief Business Officer of Cancer Prevention Pharmaceuticals. Dan is the primary visionary behind the Clear offering.
Fri, December 16, 2016
#59 Scott Weissman on Genetic Counseling Private Practice
Scott Weissman, founder of Chicago Genetic Consultants, discussing being an entrepreneur and genetic counselor at his private practice along with the subfields of genetic counseling he focuses on including cardiogenetics, hereditary cancer, and carrier screening. He shares his expertise on direct-to-consumer genetic testing offered from a variety of companies. Scott Weissman is a trailblazing genetic counselor who recently started his own independent practice, Chicago Genetic Consultants. He has previously been a genetic counselor at GeneDX and NorthShore University HealthSystem. Scott has received the Strategic Leader Award from the National Society of Genetic Counselors for working on multiple projects related to Medicare guidelines for cancer genetic testing, publishing genetic counseling and testing vignettes in the journal Community Oncology, and the United States Preventative Services Task Force BRCA genetic counseling guidelines. Scott is currently a Clinical Faculty member at the Northwestern University Graduate Program in Genetic Counseling and a senior genetic counselor at Aurora Health Care.
Fri, December 09, 2016
#58 Joanne Kamens on Gender Equality in Science
Dr. Joanne Kamens discusses gender equality in work environments, specifically in scientific fields and how to have a successful career in science. We talk about the progress made so far, and how much more advances there are to be made. Trailblazers such as Sheryl Sandberg have been increasing awareness for gender work equality with her Lean In movement. Joanne offers her insight why women are not represented in CEO, President and other high positions in companies. She comments on the gender pay gap and how companies can work towards closing the gap. Careers in science include academia and research, but the list doesn't end there. Joanne explains a few non-traditional roles offered at Addgene and other companies. She shares her own experience to finding her current role at Addgene. Networking is key in careers, and Joanne discusses this in her Not Networking video. Dr. Joanne Kamens is the Executive Director of Addgene, a mission driven, nonprofit dedicated to helping scientists around the world share plasmid reagents. We previously talked to her colleague, Dr. Melina Fan about Addgene. Joanne received her PhD in Genetics from Harvard Medical School then spent 15 years at BASF/Abbott, ultimately serving as Group Leader in Molecular Biology. In 2007 she joined RXi Pharmaceuticals as Senior Director of Research Collaborations. Dr. Kamens has been raising awareness of women scientists since 1998. She founded the current Boston chapter of the Association for Women in Science. Dr. Kamens was recognized as one of the 2013 PharmaVoice 100 Most Inspiring and one of the Forty Over 40 Women Making an Impact.
Fri, November 25, 2016
#57 Georgia Hurst on Lynch Syndrome
Patient advocate, Georgia Hurst, shares about the hereditary cancer syndrome that she has, Lynch syndrome. It is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon and rectum, and the reproductive organs in woman depending on which of the five Lynch syndrome mutations they hold. Georgia shares about her journey with Lynch syndrome from genetic counseling and genetic testing to find her mutation to risk reducing surgeries and how it has altered her life. New research and treatments in the hereditary cancer syndrome community is also Genetic counselors are important in guiding patients through genetic testing. Genetic counselors are valuable resources for helping patient learn about what hereditary cancer syndromes they may have and information for risk reducing surgeries. We highlight the difference between people practicing genetic counseling and certified genetic counselors. Georgia Hurst is a Lynch Syndrome Advocate, with her roles as Founder and Executive Director of the nonprofit, IHaveLynchSyndrome.com, a fantastic resource for people to learn about Lynch syndrome and read personal blog posts by Georgia on her experiences. Georgia has Lynch syndrome which is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon and rectum, and the reproductive organs in woman depending on which of the five Lynch syndrome mutations they hold. She is a stakeholder in the National Academy of Sciences: Genomics and Population Health Action Collaborative. Her mission is to educate doctors and the public around the globe about Lynch syndrome.
Fri, November 18, 2016
#56 Brianne Kirkpatrick on Ancestry Genetic Testing
Genetic counselor Brianne Kirkpatrick discuss family health history in honor of November being it’s awareness month, what the public should know about direct-to-consumer tests, how ancestry genetic testing works, and insight on running a private practice. Brianne Kirkpatrick, is a licensed and certified genetic counselor with more than 11 years of experience. She is a member of the National Society of Genetic Counselors, International Society of Genetic Genealogy, and the National Genealogical Society. She has her own private practice, WatershedDNA, where she offers clients her expertise in medical genetics and counseling to provide support and information to those seeking DNA testing for genealogy and health purposes. Brianne received her Bachelor’s in Biology and Religious Studies at Indiana University followed by a Master’s in Genetic Counseling at Northwestern University.
Fri, November 04, 2016
#55 Sharon Begley on CRISPR, a BRCA Event
Sharon Begley presented at UCONN about the invention and evolution of the CRISPR-CAS9 technology. After the event she joins me on the show to discuss how CRISPR technology is making huge advances in research with HIV/AIDS, sickle cell disease and more. We discuss how CRISPR compares to other genetic editing technologies and why it has become so universal. Sharon Begley, is a science communicator and is the senior science writer at STAT, the life sciences publication of the Boston Globe. Sharon Begley was previously the senior health and science correspondent at Reuters, the science editor and the science columnist at Newsweek, and a contributing writer at the magazine and its website, The Daily Beast. She is the co-author of the book, The Emotional Life of Your Brain. Another UCONN event is discussed in this episode, Environment, Epigenetics and Cancer: How to Cultivate the Connections. I highlight points from Dr. Mary Beth Terry’s keynote presentation, “Breast Cancer Susceptibility: Rethinking the role of the environment and methods to improve risk assessment” including risk factors for breast cancer and the models used to calculate this risk. Panelist at the event who accompanied Dr. Terry on stage are Dr. Gary Lee Ginsberg, a toxicologist for the CT Dept of Public Health, Ellen Matloff, a certified genetic counselor and President of My Gene Counsel, and Dr. Christina Stevenson, an oncologist at UConn Health. Panel Moderators: Dr. Robert Henning, CPH-NEW Investigator and Dr. Judy Brown, Director Diagnostic Genetic Sciences Program and Health Care Genetics Professional Science Master's Degree Program. I discuss the major topics brought up by the audience along with the panelist responses.
Tue, October 18, 2016
#54 NYS Regional Cytogenetics Meeting
Four events in one episode! I cover the NY Cytogenetics Regional Meeting I attending highlighting interesting points from presentations by Dr. Irene Cherric, Dr. Robert Hutchinson, Thomas Pope, Dr. Kazim R. Chohan, and Dr. Frank Middleton. I also discuss my presentation on the public's awareness of genetics through social media. These three genetic events are upcoming at UCONN/UCONN Health. All three have a focus on epigenetics, showing just how influential and universal this field of genetics is becoming. Environment, Epigenetics and Cancer: How to Cultivate the Connections October 24th, 2016 at 11:30 in the Student Union of UCONN Storrs, CT. Keynote Presentation by Mary Beth Terry, PhD “Breast Cancer Susceptibility : Rethinking the role of the environment and methods to improve risk assessment” Goal of the event to provide attendees with an update of current research and our understanding of the role of epigenetics and the environment in cancer risk and development. The panel will discuss advances in risk assessment, implications of scientific discoveries, epigenetic biomarkers and technological advances in screening, diagnosis and treatment of cancer as well as provide feedback about the public and patient perspective. Gene Editing: The CRISPR Revolution October 26th, 2016 at 6pm in the Dodd Research Center f UCONN Storrs, CT. Keynote speaker, Sharon Begley, the the senior science writer at STAT, the life sciences publication of the Boston Globe will be discussing the invention and evolution of the CRISPR-CAS9 technology. It seems as if the possibilities for CRISPR are endless: drought–resistant crops, disease resistant livestock, new drugs and a cure for cancer. How does this technology work? What are some of the current explorations of the gene editing technology? What are the limitations and the risks of its use? What ethical conversations need to be had by science, the public, policymakers? Prader-Willi Syndrome: New Epigenetic Findings and Potential Routes to Therap November 4th, 2016 at 2pm in the Henry B.C. Low, M.D. Learning Auditorium at UCONN Health in Farmington, CT. The keynote speaker will be Marc Lalande, Ph.D., Health Net Professor and Chairman from the Department of Genetics and Genome Sciences, UConn Health.
Fri, October 14, 2016
#53 Ginger Nichols on MotherToBaby
Genetic counselor, Ginger Nichols, shares about what the MotherToBaby service offers (1-860-679-6199 for CT), her role as a genetic counselor, her expertise of the impact of the Zika Virus on pregnancy, the recommendation of flu shots for pregnant women, the effect of drugs on pregnancy, and October being Pregnancy and Infant Loss Awareness Month. Ginger also offers her insight into becoming a genetic counselor. Ginger Nichols is a certified genetic counselor. She currently works for MotherToBaby CT, which is housed at UCONN Health in the Human Genetics department. Previously she worked in cytogenetic laboratories, taught undergraduate biology/genetics, and counseled adults with Down syndrome and other genetic disorders. She received her bachelor’s in Biology and Sociology at Juniata College followed by a Master’s in Medical Genetics at the University of Cincinnati. If you want to find a genetic counselor in your area, please go to nsgc.org, there you can find a search feature that allows you to locate a genetic counselor near you or genetic counselors that offer phone session. To learn more about the field check out NSGC's new website, aboutgeneticcounselors.com.
Fri, September 23, 2016
#52 Charcot Marie Tooth Interview
September is national awareness month for Charcot Marie Tooth (CMT)! It’s perfect timing for Bernadette Scarduzio and Allison Moore to educate us on CMT in honor of the awareness month. "Charcot-Marie-Tooth disease (CMT), named after the three doctors who first identified it, is one of the most common inherited nerve disorders. CMT affects an estimated 1 in 2,500 people in the United States and 2.6 million people worldwide, although experts believe the number could be much higher." (hnf-cure.org) Bernadette Scarduzio and Allison Moore are a passionate advocates for Charcot Marie Tooth (CMT) syndrome working for the Hereditary Neuropathy Foundation. Allison is the Founder and CEO and Bernadette is the Social Media Coordinator. Bernadette was born with CMT and lives with the syndrome every day. To raise awareness for the disease Bernadette’s life and family were featured in her self titled documentary, supported by HNF. Many of Bernadette’s family members also have the syndrome and she has made it her mission to fight for CMT. To check out the Hereditary Neuropathy Foundation’s Patient-Centered Charcot-Marie-Tooth Summit you can visit the webpage. Follow Bernadette and the Hereditary Neuropathy Foundation on social media to stay updated on Twitter (@BernsLife13 and @CMTNeuropathy), Facebook (@BernsLife and @Bernadettecmtmovie).
Fri, September 16, 2016
#51 Nevena Hristozova on Stress Proteins in Plants
Nevena Hristozova joins me on the show all the way from Brussels! She is in the field of research working with chaperones - stress related proteins, in plants under unfavorable environmental conditions. Nevena maps the molecular interactions of those proteins and their client proteins. We discuss the relationship between chaperons and plants, different types of stress related proteins, chaperons in humans and GMOs. She started her education in Biotechnology in her home country of Bulgaria, then moved to Helsinki for a master's degree in Natural resources, and is now last year PhD student in the Flemish Institute for Biotechnology in Brussels. Nevena's been working on molecular mechanisms of plant resistance and protection against pathogens and environmental conditions. You can check out her blog and follow her on Twitter at @NHristozova.
Thu, August 18, 2016
#50 Dr. Melina Fan about Addgene
Dr. Fan explains what plasmids are, highlights cool genes that are inserted into plasmids and how Addgene's plasmid repository works.
Thu, July 28, 2016
#49 Brittany Gancarz on Prenatal Genetic Counseling
Prenatal genetic counselor Brittany Gancarz talks about the field of genetic counseling, busts a few genetic counseling myths and announces a new genetic counseling program in Connecticut! She shares her expertise on genetic testing, what patients can expect during a prenatal genetic counseling appointment, and gives advice to students who are pursuing genetic counseling. Brittany Gancarz graduated from Sarah Lawrence College with a master’s of science degree in Human Genetics. She is a genetic counselor and a clinical instructor in UCONN Health’s Genetics and Developmental Biology department.
Tue, July 19, 2016
#48 Dr. Ellen Elliott on lncRNAs and CRISPR
Dr. Ellen Elliott discusses her research of lncRNAs in TH2 cells and asthma. One of the technologies she uses to study this is CRISPR, a genetic editing technology. CRISPR has hit the mainstream media fast, it was recently featured on the cover of TIME magazine. Dr. Elliott also gives us a sneak peak at Jackson Laboratory’s new blog series. Dr. Ellen Elliott is a Postdoctoral Associate in Adam Williams’ lab at the gorgeous Jackson Laboratory Genomic Medicine in Farmington, CT. Dr. Elliott is studying the function of long non-coding RNAs in TH2 cells and asthma. Her results will hopefully generate lncRNAs that could be used as therapeutic targets or in diagnostic tests. Dr. Elliott graduated from Indiana University with a BS in Biology and a BS in Neuroscience. After she graduated from the University of Pennsylvania with a PhD in Cell and Molecular Biology.
Thu, May 19, 2016
#47 Sharon Turcotte on lncRNAs
Sharon Turcotte did research on lncRNAs with Williams Lab at the Jackson Laboratory for Genomic Medicine. She teaches us what a lncRNA is, its function in gene expression, diseases lncRNAs have been associated with, using the CRISPR-Cas system and her advice for students joining the biotech industry. If you want to learn more about RNAs, check out the database RNAcentral.org. You can also read more information about Williams Lab.
Mon, April 25, 2016
#46 DNA Day!
National DNA Day commemorates the completion of the Human Genome Project in April 2003 and the discovery of the double helix of DNA in 1953. NHGRI began celebrating DNA Day annually on April 25th after the 108th Congress passed concurrent resolutions designating it as DNA Day. The goal of National DNA Day is to offer students, teachers and the public an opportunity to learn about and celebrate the latest advances in genomic research and explore how those advances might impact their lives. Check out NIH's director, Francis Collin's AMA on Reddit, the Harry Potter and the Genetics of Wizarding webinar and the tweetchat #DNADay16 archives. To celebrate on the show, I talk about what DNA is, the history of humans discovering new aspects of DNA, the fun events you can take part in and careers that all relate to DNA. Any questions about DNA Day and it’s events can be direct to dnaday@nih.gov. You can learn more on their website, https://www.genome.gov/10506367/national-dna-day/.
Mon, April 18, 2016
#45 Hole In The Wall Gang Camp
The Hole in the Wall Gang Camp is dedicated to providing “a different kind of healing” to seriously ill children and their families throughout the Northeast, free of charge. It’s a community that celebrates the fun, friendship and spirit of childhood, where every kid can “raise a little hell.” Former camper and current camp counselor, Ester Wasserman shares the magic of camp, how it was founded, what it offers campers and her own experience through the years.
Tue, March 29, 2016
#44 CRISPR
CRISPR is a genetic editing technology that will change the future of genetics. In the past 3 years it has been used in labs throughout the world. It has the potential to fix point mutations and larger mutations in our genome. Diseases caused by point mutations include Cystic Fibrosis, Sickle Cell Anemia, and Tay-Sachs disease. More complex conditions such as cancer, HIV or autism could be cured if the RNA gene editing is developed further. On March 16th, 2016, it was published that RNA was successfully targeted for the first time. This is just the beginning of CRISPR. Listen to hear how CRISPR works and how it was discovered. Get the inside scoop on the current research, ethics, politics, and patents.
Mon, March 21, 2016
#43 Lynch Syndrome
March is colorectal cancer awareness day and March 22nd is Lynch Syndrome awareness day! Hereditary nonpolyposis colorectal cancer (HNPCC), more commonly known as Lynch syndrome, is an inherited condition that greatly increases the risk of many cancers, most notably colorectal cancer. This condition also increases the risk for other cancers such as endometrial, ovarian, and gastric cancer. Cancers that have a less severe risk increase include hepatobiliary tract, urinary tract, small bowel, pancreatic, brain/central nervous system, and sebaceous neoplasms. Not all people with Lynch syndrome have the same elevated risks. Risk levels depend on which gene(s) have mutations. Lynch syndrome is caused by mutations in the following genes, MLH1, MSH2, MSH6, PMS2, and/or EPCAM. This paper will explore the differing risks of types of cancers between genes along with how those gene variants are identified and measures that can be taken to reduce those risks. To learn more about Lynch Syndrome you can go to the Genetics Home Reference at ghr.nlm.nih.gov. Hear from Lynch syndrome patient, Georgia Hurst, who is also an advocate and has her own support group, "I Have Lynch Syndrome" on episode 25!
Mon, March 14, 2016
#42 Women In Bioscience: Let There Be No Limit
Jackson Laboratories held The Bioscience Career Forum II: Women in Biosciences on March 11, 2016 at it's newest location on UCONN Health’s campus in Farmington, CT. The Forum centered on recruiting and retaining women in the biosciences. Women leaders in the bioscience industry discussed what it takes to enter Connecticut's most rapidly developing sector. Topics included equalizing the the gender gap in the biosciences, vital skill acquisition and training, the importance of networking and finally, how to land job. Speakers included.... Ellen Matloff is the former director of Yale's Cancer Genetic Counseling program and current CEO and president of My Gene Counsel. Her keynote address focused on society’s impact on girls and women pursuing careers in the biosciences. Dr. Albert Cheng, Assistant Professor, JAX-GM, presented on CRISPR –Cas9 Genome Editing Technologies. A panel of women in the bioscience field discussed being a women in the field and answered students questions. Dr. Susan Mockus, Manager, Clinical Analytics and Curation, The Jackson Laboratory for Genomic Medicine Dr. Espy Anguiano, Senior Manager, Genome Technologies Operations, The Jackson Laboratory for Genomic Medicine Dr. Kimberly Dodge-Kafka, Associate Professor, Department of Cell Biology, UConn Health Dr. Barbara Kream, Professor of Medicine and Genetics & Genome Sciences, and Associate Dean of the Graduate School, UConn Health Moderator: Melanie Sinche, M.Ed., NCC, Director of Education, The Jackson Laboratory for Genomic Medicine.
Mon, February 29, 2016
#41 Rare Disease Day 2016
February 29th is the rarest day of the year and that means it's Rare Disease Day! Throughout the world NORD (The National Organization of Rare Diseases) has hosted Rare Disease Day events. I attended the Connecticut Rare Disease Day at the State House in Hartford and interviewed a few of the presenters including Jackie and Eloise Stager, founders of JaxLegacy, John Hopper, the director of the Fibrolamellar Cancer Foundation and Maddie Shaw, leader of Maddie's Herd. Join the rare disease tweetchat March 1st, 2016 at 1pm ET using the hashtag, #abcDRBchat.
Mon, February 22, 2016
#40 UCONN-TIP (Technology Intern Program)
Dr. Caroline Dealy returns to the show to discuss the UCONN-TIP (Technology Intern Program). She is the founder and director of the program. UCONN-TIP pairs UConn students with university start-up companies for mentored research internships in business or STEM. She shares what kind of research experience can students anticipate and how it can help in your career. You can read more about the program and apply. Submit your application soon, the deadline is March 7th, 2016!
Mon, January 25, 2016
#39 Sun Kissed & Kardashian's Genetic Testing
On a recent episode of the Keeping Up With The Kardashians, the family went through genetic testing, but what did the episode leave out or get wrong? I review the documentary Sun Kissed: One Gene Exposes a Nation's Dark Past, about a family who has children with an extremely rare genetic disorder, Xeroderma Pigmentosum, that only shows up at a rate of one in a million in the general population however on the Navajo Reservation they live on where the frequency is 1 in 20,000.
Mon, January 18, 2016
#38 Here Is A Human Being Book Review
In his book, Misha Angist takes you through his experience as the fourth subject in the Personal Genome Project, George Church’s ambitious plan to sequence the entire genomic catalog: every participant’s twenty thousand–plus genes and the rest of his or her six billion base pairs. He shares his thought process on deciding to be a participant and contemplates the advantages and disadvantages. This journey takes you through Angist discovering his variants and what disease he was at a higher risk for.
Sat, January 02, 2016
#37 Your Cells. Their Research. Your Permission?
Rebecca Skloot, best-selling author, has published an article, "Your Cells. Their Research. Your Permission?", in it she urges the public to voice their opinions whether permission should be required by scientists to use people's cells for research. She poses the following questions for the public to comment on on a government website, but do it fast because it closes January 6th, 2016. “Should scientists have to ask permission to use all leftover clinical samples? Would you say yes? Is broad general consent enough, or do you want options for more control? Why? Should this apply to both tissues and genetic information, anonymous or not? And what if this slowed scientific progress?” Need more information to form your opinion? Check out this one page summary and videos from the Department of Health and Human Services.
Thu, November 05, 2015
#36 BRCA UCONN Event
I recap the UCONN BRCA event I MCed. It featured a panel of experts including a Certified Genetic Counselor (Robin Schwartz, featured below), members of the department of Public Health Genomics Advisory, Physicians and Cancer survivors. There was an interactive presentation about family history tool, education, and cancer genomics best practices. There was a discussion with medical personnel and patients about identifying risk factors for hereditary breast and ovarian cancer, genetic testing, how to find qualified genetic personnel, sharing a BRCA diagnosis, and ethical issues surrounding genetic testing.
Mon, October 19, 2015
#35 October Awareness Month
It’s October and that means it National Awareness for many cancers, disorders and diseases. I discuss some of these giving a 101 lesson on the diseases such as breast cancer and liver cancer. Don't forget to attend the BRCA event, "Understanding Risk for Breast and Ovarian Cancers: A Discussion for Students as Consumers & Future Healthcare Provider". It is happening here at UCONN Storrs!
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