The Genetics Podcast

EP 260: How AI is reshaping genomics, disease prediction, and biosecurity with Jeffrey Barrett of the University of Helsinki Oct 8, 2026 00:45:08 This week on The Genetics Podcast, Patrick is joined by Dr. Jeffrey Barrett, Group Leader at the Ellis Institute Finland and the University of Helsinki. They discuss using AI and federated biobank data to stratify common chronic diseases, how LLMs reading clinical notes in Finland's health registries can reveal treatment response, how AI is changing the way scientists research and train, and w

EP 259: A patient community driving awareness and research for Danon disease with Jenny Hsieh of the Danon Foundation Oct 1, 2026 00:38:40 SummaryThis week on The Genetics Podcast, Patrick is joined by Jenny Hsieh, Co-Founder and President of the Danon Foundation. They discuss how Danon disease affects males and females, why it is so often misdiagnosed, the current therapy landscape and research priorities, and how families can make informed decisions about gene therapy trials.Show Notes0:00 Intro to The Genetics Podcast00:59 Welcome

EP 258: The mutations hiding in healthy tissues with Inigo Martincorena of the Wellcome Sanger Institute Sep 24, 2026 00:39:14 This week on The Genetics Podcast, Patrick is joined by Dr. Inigo Martincorena, Group Leader at the Wellcome Sanger Institute. They discuss the discovery of widespread cancer-driver mutations in normal tissue, the role of somatic mutations in autoimmune disease, new sequencing technologies transforming the field, and the therapeutic potential of targeting these mutations.Show Notes0:00 Intro to Th

EP 257: Managing hereditary cancer risk and medical uncertainty with Marleah Dean Kruzel of the University of South Florida Sep 17, 2026 00:39:21 This week on The Genetics Podcast, Patrick is joined by Dr. Marleah Dean Kruzel, Professor of Communication at the University of South Florida. They discuss her personal path from watching breast cancer move through her family to testing positive for a hereditary mutation herself, the ART framework she developed for managing uncertainty, and the complexities of communicating genetic risk within fa

EP 256: Cutting through the AI hype in drug discovery with Dave Hallett of Recursion Sep 10, 2026 00:40:59 This week on The Genetics Podcast, Patrick is joined by Dr. David Hallett, Chief Scientific Officer at Recursion. They discuss the biggest shifts in drug discovery over Dave's three-decade career, where AI is genuinely transforming the field today versus where the hype outruns the reality, and how Recursion's perturbational maps have uncovered and validated a novel neurodegeneration target

EP 255: Turning long-read sequencing into a routine part of clinical care with Danny Miller of the University of Washington Sep 3, 2026 00:36:44 This week on The Genetics Podcast, Patrick is joined by Dr. Danny Miller, Assistant Professor of Pediatrics and of Laboratory Medicine and Pathology at the University of Washington and Attending Physician at Seattle Children's Hospital. They discuss the case for making long-read sequencing the first genetic test every patient receives, the reference dataset his lab is building from the 1000 Ge

EP 254: Triangulating genetic evidence and dodging bias to pick winning drug targets with Brent Richards of 5 Prime Sciences Aug 27, 2026 00:41:54 This week on The Genetics Podcast, Patrick is joined by Dr. Brent Richards, CEO and Founder of 5 Prime Sciences and Professor of Human Genetics, Epidemiology, and Medicine at McGill University. They discuss how to triangulate different types of genetic evidence to validate a drug target, why herd psychology often drives which targets get funded, why strong genetic support didn't save the Zeus

EP 253: The genetics of brain size, growth, and aging with Andrew Jackson of the University of Edinburgh Aug 20, 2026 00:37:17 This week on The Genetics Podcast, Patrick is joined by Dr. Andrew Jackson, Programme Leader at the MRC Human Genetics Unit at the University of Edinburgh. They discuss how his lab discovered that gain-of-function DNMT3A mutations cause both microcephalic dwarfism and an accelerated aging syndrome, and what that reveals about the shared biology of growth and aging.Show Notes0:00 Intro to The Genet

EP 252: The diagnosis that became a mission to cure rare disease: Advancing genetic medicine using AI with Stevie Ringel of Nome Aug 13, 2026 00:37:58 This week on The Genetics Podcast, Patrick is joined by Stevie Ringel, co-founder of Nome and founder of the Kizuna Foundation. They discuss Stevie's own ultra-rare disease diagnosis and shaped his path to founding Kizuna Foundation and Nome, how Nome's AI agents help scientists navigate the operational complexity of small-batch drug development, the technical and business model advantages

EP 251: Cracking the delivery barrier in genetic medicine with Jagesh Shah of Mirai Bio Aug 6, 2026 00:38:37 This week on The Genetics Podcast, Patrick is joined by Dr. Jagesh Shah, Chief Scientific Officer at Mirai Bio. They discuss why delivery is a central bottleneck holding back nucleic acid medicines, how Mirai's lipid nanoparticle (LNP) platform is built to reach tissues like adipocytes and T cells, and the machine learning feedback loop the company uses to engineer LNP formulations.Show Notes0

EP 250: Redefining rare disease realities with Sharon Terry of the Genetic Alliance [Re-run] Jul 30, 2026 00:41:59 This week on The Genetics Podcast, Patrick is joined by Sharon Terry, President & CEO of Genetic Alliance. They discuss how Sharon established a layperson-led biobank, her long-term work on rare diseases and patient advocacy, and her program to bring genetic technology to patients in low- to middle-income countries. We’re re-running this episode for its enduring lessons on patient advocacy, ra

EP 249: Building the world's most detailed genetic map of inflammatory bowel disease with Carl Anderson of the Wellcome Sanger Institute Jul 23, 2026 00:41:55 This week on The Genetics Podcast, Patrick is joined by Dr. Carl Anderson, Senior Group Leader and Head of the Human Genetics Programme at the Wellcome Sanger Institute, where he leads the Genomics of Inflammation and Immunity Group. They discuss IBDVerse, the single-cell atlas Carl's team built to map genetic effects on gene regulation across gut cell types, how coding and non-coding variants

EP 248: The blood mutations rewriting cardiovascular risk: Clonal hematopoiesis and polygenic risk with Pradeep Natarajan of Massachusetts General Hospital Jul 16, 2026 00:48:08 This week on The Genetics Podcast, Patrick is joined by Dr. Pradeep Natarajan, Director of Preventive Cardiology at Massachusetts General Hospital and Associate Professor of Medicine at Harvard Medical School. They discuss the discovery of clonal hematopoiesis as a driver of cardiovascular disease, the inflammatory mechanisms and emerging therapies targeting it, the growing clinical case for polyg

EP 247: Why neurons accumulate mutations like clockwork: Somatic mosaicism and neurodegeneration with Christopher Walsh of Boston Children's Hospital Jul 9, 2026 00:37:50 This week on The Genetics Podcast, Patrick is joined by Dr. Christopher Walsh, Professor of Pediatrics and Neurology at Harvard Medical School, Chief of Genetics and Genomics at Boston Children's Hospital, and HHMI Investigator. They discuss his path from neurobiology to human genetics, how somatic mosaicism in the brain drives disease from epilepsy to Alzheimer's, and what this reveals ab

EP 246: Turning a fatal diagnosis into a cure strategy: Accelerating C9orf72 ALS research with Yentli Soto Albrecht of CureC9 Jul 2, 2026 00:34:07 This week on The Genetics Podcast, Patrick is joined by Yentli Soto Albrecht, physician-scientist in training and founder of CureC9. They discuss how losing her father to C9orf72 ALS, and later learning her own genetic risk, reshaped the direction of her career. The conversation explores the biology linking the C9 repeat expansion to ALS and FTD, and how CureC9 is removing barriers across biomarke

EP 245: Developing targeted therapies for ALS with Eric Green of Trace Neuroscience [Re-run] Jun 25, 2026 00:43:47 This week on The Genetics Podcast, we're re-airing our conversation with Eric Green, Founder and CEO of Trace Neuroscience, Co-Founder and Chief Scientific Officer at Maze Therapeutics, and Adjunct Clinical Assistant Professor at Stanford University School of Medicine. Patrick and Eric discuss Eric's transition from cardiology to entrepreneurship, the role of highly focused biotechs in cre

EP 244: Building the first n-of-1 ASO: The new frontier of rare disease with Timothy Yu of Boston Children’s Hospital Jun 18, 2026 00:44:23 This week on The Genetics Podcast, Patrick is joined by Dr. Timothy Yu, Associate Professor of Pediatrics at Harvard Medical School and Physician/Researcher at Boston Children’s Hospital. They discuss how one child’s hidden genetic mutation led Tim into individualized ASO medicine, what it takes to develop n-of-1 therapies, and how new regulatory frameworks could expand treatment options for child

EP 243: How BD² is using genetics and deep phenotyping to transform bipolar research with Cara Altimus and Ben Neale Jun 11, 2026 00:47:53 This week on The Genetics Podcast, Patrick is joined by Dr. Cara Altimus, CEO of BD², and Dr. Benjamin Neale, Associate Professor at Harvard Medical School and Massachusetts General Hospital. They discuss how rare variant discovery is opening new routes into bipolar disorder biology, how BD² is combining genetics with longitudinal multimodal data, and how patient priorities are shaping a research

EP 242: Connecting dementia research, policy, and patient communities with Angela Bradshaw of Alzheimer Europe [Re-Run] Jun 4, 2026 00:42:43 This week on The Genetics Podcast, Patrick is joined by Dr. Angela Bradshaw, Director for Research at Alzheimer Europe and honorary lecturer at the University of Glasgow. Following a series of recent episodes exploring Alzheimer’s disease research, we’re revisiting this conversation to bring in an essential patient advocacy and nonprofit perspective on the field. Patrick and Angela discuss how Alz

EP 241: The hard-won lessons behind Encoded Therapeutics’ Dravet syndrome gene therapy with Salvador Rico [Re-run] May 28, 2026 00:45:47 This week on The Genetics Podcast, Patrick is joined by Salvador Rico, Chief Medical Officer at Encoded Therapeutics. With Encoded’s Dravet syndrome gene therapy program recently reaching major clinical and regulatory milestones, we’re revisiting this conversation on Salvador’s journey into drug development, his work on gene therapy for X-linked myotubular myopathy, and the fundamental challenges

EP 240: Hijacking DNA repair machinery to treat Huntington’s disease with Vincent Dion of the UKDRI May 21, 2026 00:43:31 This week on The Genetics Podcast, Patrick is joined by Dr. Vincent Dion, Group Leader at the UK Dementia Research Institute at Cardiff University. They discuss how repeat expansions drive Huntington’s disease and other neurological disorders, why DNA repair can sometimes worsen these mutations over time, and how CRISPR nickase editing could offer a new way to shrink disease-causing repeats rather

EP 239: What long-read sequencing reveals about Alzheimer’s and ALS with Paul Valdmanis of the University of Washington May 14, 2026 00:40:19 This week on The Genetics Podcast, Patrick is joined by Dr. Paul Valdmanis, Associate Professor at the University of Washington. They discuss the impact of APOE4 on risk in Alzheimer’s disease, how long-read sequencing is uncovering hidden genetic variation in Alzheimer’s and ALS, and what rare variants and cryptic splicing can teach us about neurodegeneration.Show Notes0:00 Intro to The Genetics

EP 238: Uncovering epistatic interactions in complex disease with machine learning with Bin Yu of UC Berkeley May 7, 2026 00:39:13 This week on The Genetics Podcast, Patrick is joined by Dr. Bin Yu, CDSS Chancellor’s Distinguished Professor at UC Berkeley. They discuss how different statistical approaches, from linear models to random forests, can be used to study complex genetic traits, recent findings on epistasis in cardiomyopathy, and how improving robustness and reproducibility can lead to more reliable scientific conclu

EP 237: How genetics and environment shape neurodegeneration in Alzheimer's and Parkinson's with Sarah Marzi of King’s College London Apr 30, 2026 00:39:59 This week on The Genetics Podcast, Patrick is joined by Dr. Sarah Marzi, Senior Lecturer at King's College London and group leader at the UK Dementia Research Institute. They discuss the impact of genes and environment on neurodegenerative disease, including: how APOE genotype shapes microglial function, how cell type-specific epigenomics of postmortem brain tissue is revealing the role of mic

EP 236: Fixing access and design in rare disease drug development: Insights from experts and patient advocates Apr 23, 2026 00:44:40 This week on The Genetics Podcast, Patrick is joined by Lindsey Wahlstrom, Co-Founder and Chief Momatologist of Rona’s FUN LAB, Jimi Olaghere, sickle cell disease patient advocate and early CRISPR gene therapy trial participant, and Rachel Smith, Vice President and Head of Rare and Genetic Diseases at Parexel. They discuss the realities of developing and delivering advanced therapies in rare disea

EP 235: Inside Alzheimer’s disease: Blood biomarkers and predicting symptoms with Suzanne Schindler of Washington University Apr 16, 2026 00:39:59 This week on The Genetics Podcast, Patrick is joined by Dr. Suzanne Schindler, Associate Professor of Neurology at Washington University in St. Louis. They discuss how blood-based biomarkers like p-tau217 are transforming our ability to detect and stage Alzheimer’s disease, how “clock models” can estimate when symptoms may begin, and how combining biomarkers with clinical phenotyping could improve

EP 234: Inside rare disease trial operations: The role of CROs in an evolving landscape with Derek Ansel of Worldwide Clinical Trials Apr 9, 2026 00:42:51 This week on The Genetics Podcast, Patrick is joined by Derek Ansel, Global Vice President and Therapeutic Strategy Lead for Rare Disease and Oncology at Worldwide Clinical Trials. They discuss how contract research organizations design and run rare disease trials, the challenges of selecting endpoints and patient populations, and how emerging approaches like n-of-1 therapies, regulatory flexibili

EP 233: Unlocking early detection in liver disease with data and genetics with Tim Jobson of Predictive Health Intelligence Apr 2, 2026 00:33:23 This week on The Genetics Podcast, Patrick is joined by Dr. Tim Jobson, consultant physician and gastroenterologist at Somerset NHS Foundation Trust and Medical Director of Predictive Health Intelligence (PHI). They discuss the rising burden of metabolic liver disease and how routine clinical data can be used to detect disease earlier and prevent late-stage presentation. They also discuss the Live

EP 232: How ethics and law shape reproductive technology and AI in medicine with Glenn Cohen of Harvard Law School Mar 26, 2026 00:23:42 This week on The Genetics Podcast, Patrick is joined by Dr. Glenn Cohen, Professor at Harvard Law School. They discuss the evolving legal and ethical landscape of reproductive genetics, why regulation in areas like embryo selection remains limited, and questions arising around the use of AI in healthcare.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Glenn01:35 An overview of the c

EP 231: From polygenic scores to AI-driven medicine with Andrea Ganna of the Institute for Molecular Medicine Finland Mar 19, 2026 00:36:19 This week on The Genetics Podcast, Patrick is joined by Dr. Andrea Ganna, Associate Professor at the Institute for Molecular Medicine Finland (FIMM). They discuss the promise and limits of polygenic risk scores for disease prediction and clinical trials, how large-scale electronic health records and AI models could transform medical research and healthcare planning, what Finland’s national health

EP 230: From short reads to long reads in clinical genomics with Anna Lindstrand of Karolinska Institute Mar 12, 2026 00:39:40 This week on The Genetics Podcast, Patrick is joined by Dr. Anna Lindstrand, Professor and Consultant in Clinical Genetics and Genomics at the Karolinska Institute. They discuss how Sweden has scaled whole genome sequencing as a first-line test for rare disease, what long-read sequencing adds to clinical diagnostics, how national genomic infrastructure can accelerate translation into precision med

EP 229: Turning personal tragedy into a movement for preventive genetics with Matthew Goldstein of jscreen Mar 5, 2026 00:40:03 This week on The Genetics Podcast, Patrick is joined by Dr. Matthew Goldstein, CEO of jscreen. They discuss his journey from physician-scientist and biotech founder to leading a national nonprofit focused on preventive genetic screening, how a personal tragedy reshaped his mission around carrier screening and access, and what it will take to close the gap between the promise of genomics and its re

EP 228: What genomes reveal about Epstein–Barr virus and human disease with Ryan Dhindsa and Caleb Lareau Feb 26, 2026 00:45:48 This week on The Genetics Podcast, Patrick is joined by Dr. Ryan Dhindsa, Assistant Professor at the Baylor College of Medicine and PI at Texas Children’s Hospital, and Dr. Caleb Lareau, PI at Memorial Sloan Kettering Cancer Center and Assistant Professor of Computational Biology and Medicine at Weill Cornell Medicine. They discuss how a Twitter DM sparked a multi-year collaboration to extract Eps

EP 227: Discovering a new neurodevelopmental syndrome in the non-coding genome with Nicky Whiffin of the University of Oxford Feb 19, 2026 00:43:26 This week on The Genetics Podcast, Patrick is joined by Dr. Nicky Whiffin, Associate Professor and Wellcome Career Development Fellow at the Big Data Institute, University of Oxford. They discuss the discovery of a new neurodevelopmental syndrome caused by mutations in the small nuclear RNA gene RNU4-2, what this reveals about the non-coding genome and the spliceosome, and how large-scale genome s

EP 226: Scaling AAV gene therapy: Engineering delivery, safety, and cost with David Dismuke of Forge Biologics and Steven Gray of UT Southwestern Feb 12, 2026 00:38:33 This week on The Genetics Podcast, Patrick is joined by Dr. David Dismuke, Chief Technical Officer at Forge Biologics, and Dr. Steven Gray, Professor at UT Southwestern Medical Center. They discuss the evolution of AAV gene therapy from academic labs to industrial-scale manufacturing, how vector design and capsid engineering are improving CNS delivery, and what manufacturing innovation and next-ge

EP 225: Lessons from 20 years of building ocular gene therapies with Daniel Chung of Beacon Therapeutics Feb 5, 2026 00:36:46 This week on The Genetics Podcast, Patrick is joined by Daniel Chung, Chief Medical Officer of Beacon Therapeutics. They discuss lessons from developing the first ocular gene therapy (Luxturna), the complexities of designing and executing pivotal trials in inherited retinal disease, and how endpoint selection, delivery, and immunogenicity shape clinical and commercial success.Show Notes: 0:00 Intr

EP 224: Genomic newborn screening in Australia: From pilot studies to population-scale programs with Zornitza Stark of the University of Melbourne Jan 29, 2026 00:44:22 This week on The Genetics Podcast, Patrick is joined by Zornitza Stark, Professor at the University of Melbourne and Co-Group Leader at the Murdoch Children’s Research Institute. Using early findings from the BabyScreen+ genomic newborn screening study, they examine feasibility, clinical impact, and family-wide implications beyond standard screening, and consider what these insights mean for infra

EP 223: Live at JPM: Rewriting disease with next-generation genetic medicines with Michelle Werner of Alltrna and Mike Severino of Tessera Therapeutics Jan 22, 2026 00:49:16 This week on The Genetics Podcast, Patrick is joined for a special recording at the Flagship Pioneering studio during JPM 2026 by Michelle Werner, CEO of Alltrna, and Mike Severino, CEO of Tessera Therapeutics. They discuss the molecular mechanisms behind Alltrna’s engineered tRNA and Tessera’s gene-writing platforms, why 2026 marks a major inflection point as both programs enter the clinic, and c

EP 222: From genetic risk to gene editing in heart failure with Travis Hinson of the Jackson Laboratory and University of Connecticut Jan 15, 2026 00:46:59 This week on The Genetics Podcast, Patrick is joined by Dr. Travis Hinson, Professor and physician at the University of Connecticut and investigator at the Jackson Laboratory. They discuss how genetics is reshaping the understanding of heart failure, why sarcomere biology has become a central target for new gene-based therapies, and how advances in genome editing and preventive genetics could rede

EP 221: How to build a woolly mammoth: Ancient DNA and de-extinction with Beth Shapiro of Colossal Biosciences Jan 8, 2026 00:50:35 This week on The Genetics Podcast, Patrick is joined by Dr. Beth Shapiro, Chief Science Officer at Colossal Biosciences. They discuss her path into ancient DNA and evolutionary genetics, how advances in genome engineering are reshaping de-extinction and conservation science, and why restoring lost ecological functions could transform the future of biodiversity.Show Notes: 0:00 Intro to The Genetic

EP 220: Turning human brain physiology into RNA medicines with Graham Dempsey of Quiver Bioscience Dec 30, 2025 00:43:22 This week on The Genetics Podcast, Patrick is joined by Dr. Graham Dempsey, CEO and co-founder of Quiver Bioscience. They discuss Graham’s path into neuroscience and biotech, how Quiver is building genetically validated programs in pain and neurodevelopmental disorders, and what recent advances in RNA-based therapies could mean for the future of neurological disease.Show Notes: 0:00 Intro to The G

EP 219: A global effort to decode frontotemporal dementia with Arabella Bouzigues of GENFI Dec 23, 2025 00:37:53 This week on The Genetics Podcast, Patrick is joined by Dr. Arabella Bouzigues, Coordinator of the Genetic Frontotemporal Dementia Initiative (GENFI) and postdoctoral researcher. They discuss the scale and structure of GENFI as a global collaboration and what longitudinal data is revealing about genetics and biomarkers in frontotemporal dementia.Show Notes: 0:00 Intro to The Genetics Podcast01:00

EP 218: Cardiovascular genomics and the future of preventing heart failure with Krishna Aragam of the Cleveland Clinic Dec 18, 2025 00:48:42 This week on The Genetics Podcast, Patrick is joined by Dr. Krishna Aragam, Section Head of Cardiovascular Genomics and Precision Medicine at the Cleveland Clinic. They discuss Krishna’s early experiences in population research and how they shaped his approach to genetics, the major discoveries transforming cardiovascular genomics from monogenic to polygenic risk, and how new insights into heart f

EP 217: Building a genomic passport for every family: Insights from tech leader and rare disease parent Lisa Gurry of GeneDx Dec 11, 2025 00:33:51 Summary: This week on The Genetics Podcast, Patrick is joined by Lisa Gurry, Chief Business Officer of GeneDx. They discuss her path from two decades at Microsoft to leading one of the most influential genomics companies, GeneDx’s mission to deliver the fastest rare disease diagnoses, and how large-scale data, newborn screening, and AI are shaping the future of precision medicine.Show Notes: 0:00

EP 216: Four decades of advancing Duchenne research with Jeffrey Chamberlain of University of Washington Dec 4, 2025 00:47:03 This week on The Genetics Podcast, Patrick is joined by Dr. Jeffrey Chamberlain, Professor at the University of Washington School of Medicine, co-founder of Kinea Bio, and Director of the Muscular Dystrophy Cooperative Research Center of Seattle. They discuss the early breakthroughs that revealed the structure and function of the dystrophin gene, how those insights led to the creation of micro-dy

EP 215: Vectorized RNAi and the next frontier of gene silencing with Rachel Salzman of Armatus Bio Nov 27, 2025 00:43:33 Summary: This week on The Genetics Podcast, Patrick is joined by Dr. Rachel Salzman, CEO of Armatus Bio. They discuss the promise of vectorized RNAi for autosomal dominant diseases, the key scientific and clinical hurdles in gene therapy, and Rachel’s lessons from two decades in the field.Show Notes: 0:00 Intro to The Genetics Podcast01:00 Welcome to Rachel01:35 Background of Armatus Bio and the m

EP 214: Innovating large-scale and sustainable genomics with Slavé Petrovski of AstraZeneca Nov 20, 2025 00:51:19 Summary: This week on The Genetics Podcast, Patrick is joined by Slavé Petrovski, Vice President of the Center for Genomics Research at AstraZeneca. They discuss how AstraZeneca is scaling population genomics through massive biobank collaborations, developing AI models for early disease prediction, and pioneering sustainable “green” algorithms to reduce the environmental footprint of large-scale g

EP 213: Inside the science of hearing loss and gene therapy for deafness with Ellen Reisinger of the University of Tübingen Nov 13, 2025 00:35:29 This week on The Genetics Podcast, Patrick is joined by Dr. Ellen Reisinger, Professor and group leader at the University of Tübingen. They discuss her journey into hearing loss research, why otoferlin has become a leading target for gene therapy, and the emerging science shaping the next generation of treatments.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Ellen01:52 Ellen’s car

EP 212: A hub-and-spoke model for accelerating rare disease drug development with Ananth Sridhar and Sun-Gou Ji of BridgeBio Nov 6, 2025 00:46:05 Summary: This week on The Genetics Podcast, Patrick is joined by BridgeBio’s Ananth Sridhar, Chief Operating Officer of Cardiorenal Programs, and Sun-Gou Ji, Vice President of Computational Genomics. They discuss the hub-and-spoke model for de-risking and accelerating rare disease drug development, the role of human genetics in target discovery, lessons from their autosomal dominant hypocalcemia t

EP 211: Building hope for inherited blindness and deafness with Justin Porcano of Save Sight Now Oct 30, 2025 00:30:24 Summary: This week on The Genetics Podcast, Patrick is joined by Justin Porcano, co-founder and Executive Director of Save Sight Now. They discuss how his daughter’s diagnosis with Usher syndrome type 1B (USH1B) inspired the founding of Save Sight Now, the organization’s efforts to accelerate research and overcome barriers in gene therapy, and the innovative gene delivery methods and therapeutic a

EP 210: Live from ASHG: Breaking barriers in genomics with Heidi Rehm of the Broad Institute and Slavé Petrovski of AstraZeneca Oct 23, 2025 00:52:54 Summary: This week on The Genetics Podcast, recorded live at ASHG 2025, Patrick is joined by Heidi Rehm, Chief Genomics Officer at MGH’s Center for Genomic Medicine and Co-director at the Broad Institute, and Slavé Petrovski, Vice President of AstraZeneca's Centre for Genomics Research. They discuss the rapid progress of large-scale genomics, the barriers to integrating genetic data into healt

EP 209: Reinventing Fabry disease treatment with Chris Hopkins of Glafabra Therapeutics Oct 16, 2025 00:39:20 This week on The Genetics Podcast, Patrick is joined by Chris Hopkins, CEO of Glafabra Therapeutics. They discuss how Glafabra is advancing a next-generation cell therapy for Fabry disease, the differences between gene therapy modalities, and the future of cell and gene therapy innovation.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Chris01:28 Overview of Fabry disease and revivi

EP 208: Gene therapy at a crossroads: Successes, concerns, and the path forward Oct 9, 2025 00:42:58 Summary: This week on The Genetics Podcast, Patrick Short takes a solo deep dive into the current state of gene therapy ahead of next week’s live recording at ASHG. He explores the promise and limitations of adeno-associated virus (AAV) delivery, examples of gene therapies for neuromuscular diseases, and the challenges of balancing safety, cost, and commercial viability in rare diseases. Show Note

EP 207: Decoding Parkinson’s genetics on a global scale with Andy Singleton and Sonya Dumanis of GP2 and ASAP Oct 2, 2025 00:43:51 Summary: This week on The Genetics Podcast, Patrick is joined by Andy Singleton, Program Lead of the Global Parkinson’s Genetics Program (GP2), and Sonya Dumanis, COO of the Coalition for Aligning Science. They discuss the creation of GP2, how the initiative is closing representation gaps in genetics, and building global infrastructure and capacity for research.Show Notes: 0:00 Intro to The Geneti

EP 206: From caregiving to catalyzing FTD research with Wanda Smith of CureGRN Sep 25, 2025 00:38:34 This week on The Genetics Podcast, Patrick is joined by Wanda Smith, founder of CureGRN. They discuss Wanda’s journey from caring for her mother to driving FTD research, the discovery of progranulin and development of new therapies, the diagnostic odyssey and need for earlier genetic testing, and how the CureGRN community is expanding support and awareness worldwide.Show Notes: 0:00 Intro to The G

EP 205: From father to biotech founder: Building hope for children with ultra-rare diseases with Terry Pirovolakis of Elpida Therapeutics Sep 18, 2025 00:43:46 This week on The Genetics Podcast, Patrick is joined by Terry Pirovolakis, CEO and Founder of Elpida Therapeutics. They discuss Terry’s journey to create a life-saving gene therapy for his son, the founding of Elpida Therapeutics to bring hope to families with ultra-rare diseases, and the challenges of scaling therapies that aren’t commercially viable.Show Notes: 0:00 Intro to The Genetics Podcast

EP 204: Bringing cardiovascular genetics and biobank discoveries into the clinic with Samuli Ripatti of the University of Helsinki Sep 11, 2025 00:36:52 This week on The Genetics Podcast, Patrick is joined by Samuli Ripatti, Director of the Institute for Molecular Medicine Finland (FIMM), Vice Director at HiLIFE, and Professor of Biometry at the University of Helsinki. They discuss Samuli’s research on lipid and cardiovascular genetics, how polygenic risk scores are moving into clinical care, and the power of the FinnGen biobank. Show Notes: 0:00

EP 203: Building the tools behind modern genomics with Jonathan Marchini of Regeneron Sep 4, 2025 00:38:20 This week on The Genetics Podcast, Patrick is joined by Jonathan Marchini, Head of Statistical Genetics and Machine Learning at the Regeneron Genetics Center. They discuss Jonathan’s pioneering role in developing computational methods from the HapMap era through to today, how those innovations underpin large-scale imputation and analysis, and why exomes with imputation remain more powerful than wh

EP 202: Biotech at the intersection of science and politics with Max Bronstein of Aviva Strategies Aug 28, 2025 00:45:46 This week on The Genetics Podcast, Patrick is joined by Max Bronstein, CEO of Aviva Strategies. They discuss the shifting regulatory and political landscape shaping biotech, the realities of today’s drug development process, and why new incentives and flexible trial pathways are critical to advancing rare and ultra-rare disease therapies.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome

EP 201: The gene therapy playbook: Successes, setbacks, and the path forward with Richard Wilson of Astellas Aug 21, 2025 00:47:28 This week on The Genetics Podcast, Patrick is joined by Richard Wilson, Senior Vice President, Primary Focus Lead of Genetic Regulation at Astellas. They discuss where the gene therapy field stands today, diving into successes, persistent barriers, regulatory considerations, manufacturing strategies, and other reflections on important approaches to precision medicine drug development.Show Notes: 0

EP 200: From predictions to breakthroughs in genetics and biotech Aug 14, 2025 00:34:40 This week on The Genetics Podcast, we celebrate our 200th episode with a look back at some of the earliest episodes, particularly ones that foresaw major trends or went on to spark real-world impact. These include Eric Topol’s early predictions about AI in healthcare, Laurence Reid’s vision for gene therapy in hearing loss, Sir Rory Collins on the potential impact of the UK Biobank, Daphne Koller

EP 199: Functional genomics at scale: Using in vivo perturbations to study genetic risk variants in the brain with Xin Jin of Scripps Research Institute Aug 7, 2025 00:36:31 This week on The Genetics Podcast, Patrick is joined by Xin Jin, Associate Professor in the Department of Neuroscience at The Scripps Research Institute. They discuss how in vivo Perturb-seq enables scalable and high-resolution modeling of neurogenetic disorders like autism, how introducing mutations directly into living mouse brains reveals cell-type vulnerabilities and convergent pathways, and w

EP 198: Reimagining clotting disorders: Patient voices and “unreasonable” leadership with Benny Sorenson of Hemab Therapeutics Jul 31, 2025 00:43:52 This week on The Genetics Podcast, Patrick is joined by Benny Sorensen, CEO of Hemab Therapeutics. They discuss how Hemab is reimagining clotting therapies by centering patient voices, how persistence and being “unreasonable” led to their first program, and the value of their multi-modality and collaborative approach.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Benny01:49 Reimagi

EP 197: From biobanks to breakthroughs: Linking genomics to drug discovery with Heiko Runz of insitro Jul 24, 2025 00:39:41 Summary: This week on The Genetics Podcast, Patrick is joined by Heiko Runz, medical geneticist and VP of Neuroscience at insitro. They discuss Heiko’s path into therapeutic genetics, how collaboration and data integration across biobanks led to his discovery of a protective variant for age-related macular degeneration, and the role of cell-based models in drug discovery.Show Notes: 0:00 Intro to

EP 196: A new vision for sequencing: In-sample multiomics and precision medicine with Molly He Jul 17, 2025 00:47:02 This week on The Genetics Podcast, Patrick is joined by Molly He, CEO and co-founder of Element Biosciences. They discuss the current landscape of sequencing technologies, Element’s innovative sequencing platform, and the potential of using in-sample multiomic profiling across different stages of drug discovery. Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Molly01:42 Persistent b

EP 195: From junk to therapy: The untapped power of regulatory RNAs with David Bumcrot of CAMP4 Therapeutics Jul 10, 2025 00:41:32 Summary: This week on The Genetics Podcast, Patrick is joined by David Bumcrot, Chief Scientific Officer of CAMP4 Therapeutics. They discuss David’s involvement in the development of the breakthrough technologies in RNA interference and CRISPR, how CAMP4 is pioneering the use of regulatory RNAs to treat haploinsufficient diseases, and the complexities of gene regulation. Show Notes: 0:00 Intro to

EP 194: Ontologies, diagnostics, and genomics for all with Melissa Haendel of UNC Chapel Hill Jul 3, 2025 00:42:51 Summary: This week on The Genetics Podcast, Patrick is joined by Melissa Haendel, Director of Translational Informatics and Precision Health and Professor at the University of North Carolina at Chapel Hill, and Phenotypic Lead at Alamya Health. They discuss the limitations of electronic health records for rare disease diagnostics, how patient self-reporting can enhance diagnosis, expanding access

EP 193: Targeting autophagy to treat neurodegeneration with Frank Gentile of Casma Therapeutics Jun 26, 2025 00:38:42 Summary: This week on The Genetics Podcast, Patrick is joined by Frank Gentile, Chief Executive Officer of Casma Therapeutics. They discuss the role of autophagy in neurodegenerative diseases, Casma’s work on therapies for Gaucher’s disease and Parkinson’s disease, and the challenges and opportunities in rare disease biotech.Show Notes: 0:00 Intro to The Genetics Podcast00:58 Welcome to Frank 02:0

EP 192: From $88 to breakthroughs: Innovation in retinal gene therapy with Dr. Huma Qamar of Ocugen Jun 19, 2025 00:34:59 Summary: This week on The Genetics Podcast, Patrick is joined by Huma Qamar, Chief Medical Officer at Ocugen. They discuss her journey from arriving in the US with $88 in her pocket to leading gene therapy programs, Ocugen’s breakthrough in retinal disease, and how gene-agnostic therapies could transform treatment for conditions like retinitis pigmentosa.Show Notes: 0:00 Intro to The Genetics Podc

EP 191: Uncovering hidden histories and health insights from the Mexican Biobank with Andres Moreno-Estrada of LANGEBIO Jun 12, 2025 00:41:52 This week on The Genetics Podcast, Patrick is joined by Andres Moreno-Estrada, population geneticist and head of the Human Evolutionary Genomics Lab at LANGEBIO in Mexico. They discuss the creation and insights of the Mexican Biobank, the genetic diversity of Latin America, ancient human migration, and the role of locally-led research in shaping public health and scientific equity.Show Notes: 0:00

EP 190: Targeting regeneration to tackle Duchenne Muscular Dystrophy with Frank Gleeson of Satellos Jun 5, 2025 00:48:50 Summary: This week on The Genetics Podcast, Patrick is joined by Frank Gleeson, co-founder and CEO of Satellos. They discuss Satellos’ novel approach to treating Duchenne Muscular Dystrophy by targeting muscle stem cell regeneration, how this fills a critical therapeutic gap, and the promising results of their early clinical trials. They also touch on what it takes to advance drug development and

EP 189: From genetic heritability in twins to gut health with Tim Spector of King’s College London and Zoe May 29, 2025 00:47:56 Summary: This week on The Genetics Podcast, Patrick is joined by Tim Spector, Professor of Genetic Epidemiology at King’s College London and co-founder of Zoe. They discuss surprising insights on heritability from decades of twin research, the profound impact of the microbiome on health and disease, and the effect of diet on the gut microbiome. Show Notes: 0:00 Intro to The Genetics Podcast00:58 W

EP 188: Cracking the code of autism through genetics with Daniel Geschwind of UCLA May 22, 2025 00:59:54 Summary: This week on The Genetics Podcast, Patrick is joined by Daniel Geschwind, Professor, Senior Associate Dean, and Associate Vice Chancellor of Precision Health at UCLA. They discuss the circuitous career path that led Daniel to building a biobank that provided the foundation for autism genetics, the complexity of the molecular and genetic aspects of autism, and how gene therapies could adva

EP 187: Rethinking germline gene editing and revolutionizing women’s fertility with Helen O’Neill May 15, 2025 00:38:38 Summary: This week on The Genetics Podcast, Patrick is joined by Helen O’Neill, molecular geneticist, founder of Hertility Health, and associate professor at University College London (UCL). They discuss how Helen’s experience as an identical twin sparked her interest in genetics, her firsthand account of the CRISPR baby controversy, and why stubborn perceptions and sensational headlines continue

EP 186: Unpacking the science and myths around obesity and health with geneticist and author Giles Yeo May 8, 2025 00:50:15 This week on The Genetics Podcast, Patrick is joined by Giles Yeo, geneticist and author of Gene Eating: The Science of Obesity and the Truth About Dieting and Why Calories Don't Count: How We Got the Science of Weight Loss Wrong. Giles and Patrick discuss the genetic, neural, and evolutionary drivers of obesity, the advancements in safe and effective obesity drugs, and the narratives around c

EP 185: From newborn screening to lifelong data in an evolving genomics landscape with Madhuri Hegde of Revvity May 1, 2025 00:40:44 This week on The Genetics Podcast, Patrick is joined by Madhuri Hegde, SVP and Chief Scientific Officer of Revvity. They discuss Revvity’s advances in ultra-rapid clinical-grade sequencing, opportunities, challenges, and global inequities in newborn screening, and the dilemma of resequencing versus long-term data storage.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Madhuri01:52 R

EP 184: Rethinking speed and scale in clinical genomics with Euan Ashley of Stanford University Apr 24, 2025 00:42:56 This week on The Genetics Podcast, Patrick is joined by Dr. Euan Ashley, Chair of the Department of Medicine at Stanford, founder of various biotech companies, and author of The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them. They discuss Euan’s groundbreaking work on ultra-rapid genome sequencing and how widespread sequencing, wearables, and AI could shape the future of

EP 183: Rewriting the Rules for Ultra-Rare Diseases with Kent Rogers of EveryONE Medicines Apr 17, 2025 00:40:07 This week on The Genetics Podcast, Patrick is joined by Kent Rogers, Chief Executive Officer at EveryONE Medicines. They discuss Kent’s journey across every side of the desk in the drug discovery space, EveryONE Medicines’ efforts to develop antisense oligonucleotides for ultra-rare diseases, and the need to adapt regulatory models for n-of-1 therapies.Show Notes: 00:00 Intro to The Genetics Podca

EP 182: Demystifying genetic counseling with Matt Burgess Apr 10, 2025 00:48:28 This week on The Genetics Podcast, Patrick is joined by Matt Burgess, genetic counselor, host of the Demystifying Genetics podcast, and Adjunct Professor at Bay Path University. They discuss the evolution of genetic counseling, ethical challenges in gene therapy, and Matt’s experiences with his podcast.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Matt02:09 Matt’s run-ins with Oli

EP 181: Transforming frustration into breakthroughs in gene therapy with Salvador Rico of Encoded Therapeutics Apr 3, 2025 00:45:30 This week on The Genetics Podcast, Patrick is joined by Salvador Rico, Chief Medical Officer at Encoded Therapeutics. They discuss Salvador’s journey into drug development, his work on gene therapy for X-linked myotubular myopathy, and fundamental challenges and exciting advances in the genetics field.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Salvador and how he became involve

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