Episodes

  • #375 How Your Publication Can Fuel Genetic Innovation

    #375 How Your Publication Can Fuel Genetic Innovation
    Jan 9 2026
    What drives scientific discovery, and how do those discoveries evolve into treatments that transform lives? In this in-person episode of DNA Today, we’re exploring the human side of science: the curiosity, collaboration, and persistence that fuel discovery. This episode is part of a special partnership with The Advanced Portfolio from Wiley, a collection of world-leading scientific journals bridging disciplines to accelerate progress in biology, genetics, and medicine. We’re joined by two guests whose careers beautifully reflect the bridge between innovation and impact: Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics. Dr. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified. Topics Covered In This Episode: The stories behind scientific breakthroughs and what fuels discoveryHow collaboration across disciplines accelerates innovationTranslating genetic discoveries into real-world therapiesThe role of publishing and open science in driving progressHow journals are adapting to promote transparency and reproducibilityAdvice for early-career researchers balancing ambition with sustainabilityThe evolving landscape of global collaboration in scienceHow AI and automation are transforming both research and publishingThe ethics and equity considerations of AI-driven scienceThe importance of representation and global voices in genomics Key Takeaways True innovation thrives on collaboration—across labs, disciplines, and continents.Publishing isn’t the end of science; it’s a catalyst for connection and progress. Bridging basic discovery to clinical application requires persistence and shared purpose.Transparency, communication, and mentorship are essential to the next wave of breakthroughs. Relevant Resources: Wiley Advanced Portfolio Wiley’s Journal FinderGenetics and Genomics: Advanced Science Collection Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal CollectionsWiley's AI guidelines for AuthorsWiley’s ExplanAItions 2025: The evolution of AI in researchWhat Makes a Successful Submission Wiley Blog PostEligibility for access to Research4Life Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health SciencesWiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering Relevant DNA Today Podcast Episode: #337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors #345 How To Talk About DNA Without Losing People: Strategies Part 1 #350 How To Talk About DNA Without Losing People: Strategies Part 2 #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding (Drs. Bhoj and Hu were also guests) Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
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    27 mins
  • #374 The Eras of Genetic Testing: From the Human Genome Project to Precision Medicine

    #374 The Eras of Genetic Testing: From the Human Genome Project to Precision Medicine
    Jan 2 2026
    What if we looked at genetic testing not just as a tool, but as a story unfolding through eras of innovation, access, and personal meaning? To explore the genetic testing landscape over the last couple decades we are joined by a fellow podcaster Rome Madison, who is also a precision medicine expert and longtime industry leader with extensive experience working in diagnostics and precision medicine. Rome has trained sales teams, helped launch groundbreaking cancer diagnostics, and now hosts Genetics for Healthcare: A Podcast for Patients. He’s here to share not only how genetic testing has evolved across different eras, but also his personal connection to the field and why he’s committed to ensuring patients benefit from the genomic revolution. On This Episode, We Discuss: Setting the Stage: Rome’s Personal Journey How Rome entered the genetics and diagnostics space shortly after the Human Genome ProjectWhat motivates his continued work at the intersection of innovation, patients, and access Why confidence, curiosity, and communication matter in fast-changing scientific fields The Early Era: Post–Human Genome Project What diagnostics felt like in the early 2000sEarly pharmacogenomics and predicting chemotherapy responseBarriers to adoption, including cost, infrastructure, and skepticism The Growth Era: Expansion of Genetic Testing How cancer diagnostics and precision medicine began shaping standard careShifts in how clinicians and patients talked about risk and preventionLessons learned about equity, access, and unmet expectations The Current Era: Precision Medicine Goes Mainstream What distinguishes today’s genetic testing landscape from earlier erasOngoing challenges around affordability, access, and educationThe role of podcasts and science communication in empowering patients Looking Ahead: The Next Era of Genetic Testing What might define the next wave: RNA, epigenomics, microbiome, multi-omicsWhere AI and advanced data analytics fit into future care modelsWhy collaboration across pharma, diagnostics, advocacy groups, and patients is essentialWhether population-wide genetic testing could become routine in the years ahead About the Guest Rome Madison helps people and organizations in the life science industry increase confidence, embrace uncertainty and navigate chaos to rise and win in the market. With over 20 years of experience leading sales teams and go-to market strategy for successful start-ups and new products, Rome has Unreasonable Confidence that cancer and other chronic genetic diseases can be prevented, detected early, treated effectively and cured. Rome has given more than 500 live speeches and is a charismatic virtual presenter that keeps your audience glued to the screen and engaged with his content. He has appeared on more than 50 TV and radio shows across the US as a precision medicine expert, and has been a featured speaker at the Consumer Electronics Show on The Future of Healthcare. Rome’s podcast, Genetics for Healthcare: A Podcast for Patients, unites major healthcare stakeholders to close the gap of innovation and patient access to precision medicine. He is co-creator and host of the award-winning Precision Medicine Podcast, Google’s #1 rated podcast on the topic of next-generation cancer care, with listeners in over 108 countries. Relevant Resources: Genetics for Healthcare Podcast Hosted by Rome Madison American Lung Association; EGFR and Lung Cancer Breast Cancer Research Foundation; HER2-Positive Breast Cancer: Testing, Treatment, ResearchFierce Biotech; Labcorp picks up Invitae portfolio for $239M in bankruptcy saleThe Guardian; 23andMe’s founder wins bid to regain control of bankrupt DNA testing firmNational Comprehensive Cancer Network Guidelines The Patient Will See You Now Book by Dr. Eric Topol (Kira was right, it was published 10 years ago!) Relevant DNA Today Podcast Episode: #145 Greenwood Genetic Center on Epigenetics#182 Eric Green on the Complete Human Genome Project #358 AGBT Precision Health 2025 Meeting Recaps and Reflections#361 The Economics of Genetic Counseling: Policy, Industry & Career Advice#362 Optical Genome Mapping: Detecting Structural Variants Missed by Traditional Tests#363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding#364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on ...
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    45 mins
  • #373 Mock Pediatric Genetic Counseling Session: Cystic Fibrosis

    #373 Mock Pediatric Genetic Counseling Session: Cystic Fibrosis
    Dec 26 2025
    This is our sixth installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor Charlotte Close and student Marcely Ventura perform a mock genetic counseling session. The session indication is an abnormal newborn screening result for cystic fibrosis. This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service. The Actors: Marcely Ventura (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Ventura is a graduate of Hunter College with a B.A. in Human Biology. Ventura is the first recipient of the Lauren Ryan Genetic Counselor Access Memorial Award. This award celebrates Lauren Ryan’s legacy of advancing equity in genetic counseling and supports students from underrepresented communities. As a first-generation Hispanic college graduate, she is passionate about increasing access to genetic counseling for diverse communities and addressing health disparities. The premise of this mock case was part of her internship with DNA Today. Charlotte Close, MS, CGC (she/her) is a certified genetic counselor in the Division of Clinical Genetics at Columbia University Irving Medical Center (CUIMC) and a member of the multidisciplinary cystic fibrosis care team at CUIMC. She is passionate about improving access to genetic counseling services and has worked with the Cystic Fibrosis Foundation, other cystic fibrosis genetic counselors, and cystic fibrosis care team members from across the country to achieve this goal through policy changes, service delivery innovation, and educational efforts. In addition to her clinical work, Close contributes to the Graduate Program in Genetic Counseling at Columbia University by supervising students, mentoring research projects, and serving as a course director. She also serves as a Director on the New York State Genetics Taskforce. She received her Bachelor of Science in Microbiology from the University of Michigan and her Master of Science in Human Genetics from Sarah Lawrence College. Mock Session Information: Session Indication: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing. The patient’s mother, Mary, is attending the appointment. Case Details: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing. Patient Name: Liam Ventura Parent Names: Mary and Sam Ventura Medical History: Pregnancy:UncomplicatedFull term (39 wks) via NSVDNo exposures or complications reportedNormal prenatal ultrasounds Newborn Screening:Elevated immunoreactive trypsinogen (IRT)Two CFTR variants identified on screening panel Development: Appropriate for ageGrowth: Slightly below weight percentileSymptoms: Mild cough, parents believe it’s due to the change of weatherSpecialists Seen: Pediatrician only so farMedications/Treatments: None currentlyTherapies: None currently Family History: Ancestry: Dad- Irish Mom- Af. AmericanNo consanguinity, birth defects, or known genetic conditionsNo history of cystic fibrosis or early infant deathsOne paternal cousin with male infertility Prior Carrier Results: Dad- F508del Carrier Mom- Negative …. After first visit with Multidisciplinary team following variant is identified: c.1675G>A p.A559T Pediatric Mock Session Outline Contracting Greetings and introductionsReason for referral to genetic counseling (positive newborn screening for CF)Overview of session and what will be discussed: “I’m going to ask a lot of questions about when Liam was in your belly, up until now, as well as medical and family history questions just to make sure we have a full picture and aren’t missing anything. After that Dr.X will come in and do a physical/sweat test on Liam and we can talk about genetic testing options, how does that sound/any questions before we get started?” Address patient questions or concerns such as:“What does this mean for our baby?”“Does this mean he has cystic fibrosis?”“Could this happen again in another pregnancy?”“Did we do something to cause this?” Medical Intake Review pregnancy and delivery historyReview newborn historyReview of systems with focus on:Respiratory symptomsDigestive symptoms and growth patternsFrequency of ...
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    43 mins
  • #372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy

    #372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy
    Dec 19 2025
    What do you do when your family is faced with a rare disease that has no cure, and every day truly matters? In this episode of DNA Today, we focus on Hunter syndrome (MPS II), a rare, progressive genetic condition that primarily affects children and leads to serious physical, neurological, and developmental challenges over time. Our guest is Kristin McKay, Executive Director of Project Alive, a nonprofit organization dedicated to accelerating treatments, expanding access to care, and supporting families impacted by Hunter syndrome. Kristin’s advocacy is deeply personal: she lost her brother, Zachary, to Hunter syndrome, and today her son, Charlie, is living with the condition. Kristin joins us to share what Hunter syndrome is, how it progresses, and how her family’s journey shaped her leadership and advocacy. We discuss the urgent need for effective treatments, the promise and uncertainty surrounding emerging gene therapies, and what families experience when regulatory delays impact a disease where time is not a luxury. This conversation highlights both the science behind Hunter syndrome and the human cost of delay, along with the resilience of a community that continues to push forward fueled by hope. On This Episode, We Discuss: Understanding Hunter Syndrome (MPS II)What it means to have a metabolic disorder and how MPS II affects the bodyCommon symptoms and how the disease progresses over timeThe variability in presentation and severity among individuals A Family’s Journey Through Hunter SyndromeKristin’s experiences growing up with a brother affected by Hunter syndromeLosing Zachary and later receiving the diagnosis for her son, CharlieHow these experiences shaped her perspective as both a parent and an advocate Project Alive: Mission, Growth & ImpactThe origins and mission of Project AliveKey initiatives supporting research, families, and advocacyHow the organization balances funding science, supporting families, and influencing policy Gene Therapy & the RGX-121 DelayWhy RGX-121 is considered a promising potential one-time gene therapy for Hunter syndromeWhat the FDA’s Prescription Drug User Fee Act (PDUFA) date extension means for patients and familiesThe emotional and practical impact of regulatory delays in ultra-rare diseasesWhat changes could help expedite review processes for rare disease therapies Advocacy, Equity & AccessHow Project Alive amplifies the voices of a small but urgent patient communityStrategies for engaging policymakers and industry partnersLessons the broader rare disease field can learn from this advocacy model Looking Ahead & How You Can HelpWhat listeners can do to support Project AliveOpportunities for advocacy, awareness-building, and community engagement Relevant Resources: Project AliveMedlinePlus’ Mucopolysaccharidosis type II (Hunter syndrome) PageThe Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD)Royalty pens $275M financing deal for Denali drug awaiting delayed FDA decisionFDA pushes back PDUFA date for Regenxbio's Hunter syndrome gene therapyJCR Pharmaceuticals Announces the Achievement of Enrollment in the JR-141 Global Phase III Clinical TrialA Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT)FDA News Release: FDA Advances Rare Disease Drug Development with New Evidence PrinciplesMorimoto H, Morioka H, Imakiire A, Yamamoto R, Hirato T, Sonoda H, Minami K. Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice. Mol Ther Methods Clin Dev. 2022 May 10;25:534-544. doi: 10.1016/j.omtm.2022.05.002. PMID: 35662814; PMCID: PMC9142692.The Precision Medicine Initiative launched by President Obama It Happened To Me Podcast Episode #16 ALS with Brook Eby (Kira referred to this being a DNA Today episode, she misremembered doing an episode drop on DNA Today, but maybe that means we should in the future) National Organization For Rare Disorders (NORD)EveryLife Foundation For Rare DiseasesSTAT News: 1 in 10 Americans have a rare disease, but few have treatmentsCystic Fibrosis Foundation’s Venture Philanthropy ModelKim, Esther and Lo, Andrew W., Venture Philanthropy: A Case Study of the Cystic Fibrosis Foundation (April 23, 2019). Available at SSRN: https://ssrn.com/abstract=3376673 or http://dx.doi.org/10.2139/ssrn.3376673Denali Therapeutics Drug Pipelines (including MPSII) Researchers estimated that 42% of Americans over age 55 will eventually develop dementia. NIH research (lead by Dr. Francis Collins) leads to first FDA-approved treatment for progeria Relevant DNA Today Podcast Episode: #147 CF Series: Bijal Trivedi on "Breath From Salt"#149 CF Series: Gunnar Esiason on Patient Advocacy#288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1#289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2#306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19#327 How ...
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    48 mins
  • #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy

    #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy
    Dec 12 2025
    In this special episode recorded live at the New England Regional Genetics Group (NERGG) conference, we sit down with Geana Dyer, BS, RN, Founder of the Cockayne Syndrome Foundation and mother to 5-year-old Ronin, who lives with Cockayne Syndrome (CS). Geana shares her family’s personal journey from diagnosis to advocacy, offering a raw, insightful look at parenting through uncertainty while building a global support community for families affected by this ultra-rare condition. Geana presented at NERGG alongside her son’s geneticist, Katherine Anderson, MD, from the University of Vermont Medical Center. Together, they highlighted current research, care strategies, and the lived experiences behind Cockayne Syndrome, a condition still deeply misunderstood and vastly under-recognized. On This Episode We Discuss: Parenting a Child with Cockayne Syndrome:Lack of carrier screening during IVF.Genetic aspects and impact on DNA repair.Different types of Cockayne Syndrome and their symptoms. Tailored Care for Ronan:Importance of specific growth charts and dietary considerations.Role of a supportive community and foundation efforts. Overlap with Other Disorders:Similarities with other DNA repair disorders.Importance of awareness and advocacy. Support and Encouragement:Message to families and caregivers about community support.Emphasis on shared experiences and advocacy. Relevant Resources: Cockayne Syndrome FoundationTikTok: @HopeForCSInstagram: @HopeForCSFacebook Cockayne Syndrome Page on MedlinePlus Trichothiodystrophy (TTD) on MedlinePlus Cockayne Syndrome: A Manual for Healthcare ProvidersCockayne Syndrome: A Manual for Parents and CaregiversGrowth Chart: Cockayne Syndrome Type 1 and Type 2The National Initiative for Cockayne Syndrome (NICS) Amy and FriendsMRI Lego Set Midnight Sun (Kira mentioned this movie with Bella Thorn depicting Xeroderma Pigmentosum)Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. PMID: 38808024; PMCID: PMC11129329. Relevant DNA Today Podcast Episode: #39 Sun Kissed & Kardashian's Genetic Testing (Xeroderma Pigmentosum) #327 How Patient Advocacy is Changing Rare Disease Research #332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
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    35 mins
  • #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine

    #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine
    Dec 5 2025
    To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2025, and making predictions for 2026. The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2025” paper. Joining me for this discussion are two leaders in genomics: Drs. Sarah Tishkoff and Eric Green. In this reflective conversation, Kira Dineen, Dr. Sarah Tishkoff, and Dr. Eric Green discuss the significant developments in genetics and genomics over the past year, including the recent American Society of Human Genetics (ASHG) conference and NIH grant cuts. Top 2025 Papers With Genomic Medicine Advancements Gene Therapy CRISPR base editing delivered repeatedly by lipid nanoparticles is effective and safeUtility of a high-activity variant in gene therapy for hemophilia B Promising phase 2 trial of CRISPR-based therapy for hereditary angioedemaOral pre-mRNA modifiers improve outcomes in presymptomatic spinal muscular atrophy Sequencing Long-range genome sequencing enhances rare disease variant detectionLong-read genome sequencing identifies diagnostic variants Exome sequencing in critical illness is useful in adults as well as children Other Utility of pharmacogenomics in chemotherapy for GI cancers Polygenic risk score disclosure reduces adverse cardiovascular events Preimplantation genetic testing reduces risk of mtDNA diseases The Guests: Sarah Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the Perelman School of Medicine and the School of Arts and Sciences. She is also the Director of the Penn Center for Global Genomics & Health Equity in the Perelman School of Medicine. Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans. Her research combines field work, laboratory research, and computational methods to examine African population history, the genetic basis of anthropometric, cardiovascular, metabolic, and immune related traits, and how humans have adapted to diverse environments and diets. She plays an active role as an advocate for the inclusion of global populations in human genetics and genomics research. Dr. Tishkoff is a member of the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences. She is a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, the ASHG Curt Stern Award, the Wilbur Cross medal from Yale, the Vanderbilt Prize in biomedical sciences and a Penn Integrates Knowledge (PIK) endowed chair. She is President of the American Society of Human Genetics, is on the Scientific Advisory Board for the Packard Fellowships in Science and Engineering and is on the editorial boards at Cell and PLOS Genetics. Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025. He was the third NHGRI director, having been appointed by then-NIH director Dr. Francis Collins in 2009. 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 390 scientific publications. As NHGRI director, Dr. Green led the Institute's research programs and other initiatives. Under his guidance, the Institute has completed two major cycles of strategic planning to ensure that its research investments in genomics effectively advance human health. The first effort yielded the highly cited 2011 NHGRI strategic vision, “Charting a course for genomic medicine from base pairs to bedside” (Nature 470:204-213, 2011); the second yielded the 2020 paper ”Strategic vision for improving human health at The Forefront of Genomics” (Nature 586:683-692, 2020). With the rapidly expanding scope of genomics research, Dr. Green has also led NHGRI’s close coordination with other components of NIH, agencies and organizations. Dr. Green has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. These efforts include multiple NIH Common Fund Programs — such as the Undiagnosed Diseases Network, Human Heredity and Health in Africa (H3Africa), and the Human Microbiome Project — the Smithsonian-NHGRI exhibition Genome: Unlocking Life's Code, several trans-NIH data science initiatives, the NIH Genomic Data Sharing Policy and the NIH All of Us Research Program. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin ...
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    1 hr and 13 mins
  • #369 Grant Funding for Genetic Counselors: Advice from a $20M Awardee

    #369 Grant Funding for Genetic Counselors: Advice from a $20M Awardee
    Nov 28 2025
    What would you do if you had millions of dollars in funding to transform the future of genetic counseling? Few in our field have successfully taken on that challenge, and Dr. Kathleen Valverde is one of them; she has secured two groundbreaking grants totaling almost $20 MILLION. We sat down with her in-person for this episode to hear her advice on acquiring grant funding and the profound impact it can have on advancing our profession. Episode Topics Discussed: Kathy's Motivation and BackgroundKathy's role as a program director and her journey in genetic counseling.The importance of scholarships and funding for diverse backgrounds. Grant Funding and ImpactDetails of the grants from the Warren Alpert Foundation.The impact of these grants on genetic counseling education and diversity. Challenges in Genetic CounselingDiscussion on the barriers to funding and access in genetic counseling.Kathy's personal experiences and commitment to overcoming these challenges. Mentorship and NetworkingThe role of mentorship and networking in Kathy's success.Advice on starting with small grants and building a track record. Programs Supported by GrantsOverview of the Alliance for Genetic Counseling and Career Ladder Education Program.Benefits provided to students, including tuition, health insurance, and stipends. Educational Opportunities and Continuing EducationThe importance of continuing education for genetic counselors.Details of the Advanced Research Training Certificate Program. Long-term Effects and Measuring SuccessMetrics and outcomes of the grant programs.Success stories and the impact on students' careers. Advice for Aspiring Grant Recipients Kathy's advice on grant writing and overcoming imposter syndrome.The importance of perseverance and community support. Future of Genetic CounselingKathy's vision for the future of genetic counseling.The need for continued education and support in the field. The Guest: Kathleen Valverde, PhD, MS, LCGC is an Assistant Professor at the University of Pennsylvania’s Perelman School of Medicine and one of the most influential leaders in genetic counseling education. She is the principal investigator of two major Warren Alpert Foundation grants — the Alliance for Genetic Counseling (AID-GC) and the Career Ladder Education Program for Genetic Counselors (CLEP-GC) — totaling nearly $20 million to expand diversity, access, and research training in the field. Across her 40-year career, she has trained nearly 400 genetic counselors, served in key leadership roles for national organizations including ACGC, and helped establish genetic counseling licensure in Pennsylvania. A BRCA-positive family member herself, Dr. Valverde brings both professional expertise and lived experience to her mission of strengthening the genetic counseling workforce and advancing patient care. Relevant Resources: Grant Superhero: Kathleen Valverde, PhD, LCGCDr. Kathleen Valverde’s PubMed ArticlesWarren Alpert FoundationThe Warren Alpert Foundation Career Ladder Education Program - The Advanced Research Training Certificate Program for Genetic Counselors (or ART-GC)Alliance for Genetic Counseling Fellowship Audrey Heimler Special Projects Award (AHSPA)Jane Engelberg Memorial Fellowship (JEMF)The Basser Center for BRCAPhenoTips Speaker Series Live Podcast Episode: Proving Profitability in Genomics with Dr. Eric Green, Brian Reys, Marianne Olson, and Dr. Colleen Campbell Relevant DNA Today Podcast Episodes: #25 Interview with Cancer Hereditary Experts (with Ellen Matloff) #91 Ellen Matloff on Direct-To-Consumer Genetic Testing #136 Linda Robinson on the History of Genetic Counseling #234 Genetic Counseling History: 1st NSGC Conference #235 Genetic Counseling History: ABGC Formation #244 Genetic Counseling History: The 70s #319 New CPT Code 96041 Explained: 2025 Billing for Genetic Counselors #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice (with Ellen Matloff) Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! While you wait, why not dive into our backlog of over 365 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.
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    30 mins
  • #368 Mock Prenatal Genetic Counseling Session: Increased Nuchal Translucency

    #368 Mock Prenatal Genetic Counseling Session: Increased Nuchal Translucency
    Nov 21 2025
    This is our fifth installment in our Mock Genetic Counseling Session Series! In this episode, prenatal genetic counselor Brittany Gancarz and student Victoria Russo perform a mock genetic counseling session. The session indication is an abnormal ultrasound finding of an increased nuchal translucency. This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service. The Actors: Victoria Russo (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Russo is a graduate of Northeastern University with a B.S. in Cell/Cellular and Molecular Biology. The premise of this mock case was Russo’s work as part of her internship with DNA Today. Brittany Gancarz, MS, LCGC (she/her) practices as the lead prenatal genetic counselor at UConn Health, where she sees patients for a wide variety of pregnancy and preconception indications. She enjoys working as part of the healthcare team with many other skilled professionals in the Maternal Fetal Medicine department. Gancarz’s genetic counseling interests include prenatal diagnosis, cell-free DNA testing, carrier screening, ultrasound anomalies, preimplantation genetic diagnosis, and perinatal palliative care. Gancarz is on the Board of Directors for the Connecticut Genetic Counselor Association. She was awarded Bay Path University's Genetic Counseling Program’s Outstanding Clinical Supervisor of the Year. Brittany graduated from Colby College in 2010 with a Bachelor of Arts, majoring in Biology and minoring Creative Writing, and completed her master’s degree in Human Genetics at the Joan H. Marks Program in Human Genetics at Sarah Lawrence College. Mock Cardiac Genetic Counseling Session Outline Session Indication: The patient is Kylie who is a 29 year old female who is experiencing her first pregnancy (G1P0). She is currently 13 weeks gestation and on her last ultrasound had an increased nuchal translucency measurement (3.7 mm), so her OB/GYN referred her to a genetic counselor. Contracting Brittany introduces herself as the genetic counselor and confirms the referral reason.The patient, Kylie, shares her understanding of the ultrasound findings and her lack of knowledge about genetic counseling. Explanation of Ultrasound Findings Discussion of the nuchal translucency (NT) measurement and its implications.Explanation of the potential genetic conditions associated with increased NT. Screening and Testing Options Overview of non-invasive prenatal testing (NIPT) and its capabilities.Discussion of diagnostic testing options: CVS and amniocentesis, including their procedures, risks, and timing. Family History and Genetic Concerns Exploration of family history for genetic conditions or concerns.Discussion of Factor V Leiden and its implications. Decision-Making and Next Steps Discussion of the patient's feelings and decision-making process regarding testing.Planning for screening tests and follow-up consultations. Conclusion Recap of the session and reassurance provided to the patient.Information on how to reach out with further questions and the plan for future appointments. Relevant Reproductive Genetic DNA Today Episodes: Episode #224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne Episode #225 Fetal Antigen Noninvasive Prenatal Testing (NIPT) with BillionToOne Episode #270 Embryo and Miscarriage Genetic Testing with Kelly Loggenberg Episode #348 NIPT Beyond the Basics: Screening for Single-Gene Conditions Previous installments of our Mock Genetic Counseling Session series: Episode #311: Cancer Session for Breast and Prostate Cancer Family History Episode #317: Prenatal Session for Advanced Maternal Age Episode #331: Pediatric Session for Autism Episode #351: Cardio Session for Sudden Death of A Family Member Disclaimer: Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. Stay tuned for an international genetic provider directory. Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh ...
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    37 mins