Best The Save Sight Institute Podcasts (2025)

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EP 213: Inside the science of hearing loss and gene therapy for deafness with Ellen Reisinger of the University of Tübingen 35:29

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30m ago35:29

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 Gene…

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EP 212: A hub-and-spoke model for accelerating rare disease drug development with Ananth Sridhar and Sun-Gou Ji of BridgeBio 46:05

3h ago46:05

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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, le…

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EP 211: Building hope for inherited blindness and deafness with Justin Porcano of Save Sight Now 30:24

7d ago30:24

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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 …

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EP 210: Live from ASHG: Breaking barriers in genomics with Heidi Rehm of the Broad Institute and Slavé Petrovski of AstraZeneca 52:54

14d ago52:54

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 b…

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EP 209: Reinventing Fabry disease treatment with Chris Hopkins of Glafabra Therapeutics 39:20

28d ago39:20

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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 Podcast 00:59 Welcom…

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EP 208: Gene therapy at a crossroads: Successes, concerns, and the path forward 42:58

1M ago42:58

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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, an…

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EP 207: Decoding Parkinson’s genetics on a global scale with Andy Singleton and Sonya Dumanis of GP2 and ASAP 43:51

1M ago43:51

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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…

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EP 206: From caregiving to catalyzing FTD research with Wanda Smith of CureGRN 38:34

1M ago38:34

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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 a…

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EP 205: From father to biotech founder: Building hope for children with ultra-rare diseases with Terry Pirovolakis of Elpida Therapeutics 43:46

2M ago43:46

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 via…

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EP 204: Bringing cardiovascular genetics and biobank discoveries into the clinic with Samuli Ripatti of the University of Helsinki 36:52

2M ago36:52

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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 t…

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EP 203: Building the tools behind modern genomics with Jonathan Marchini of Regeneron 38:20

2M ago38:20

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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 e…

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EP 202: Biotech at the intersection of science and politics with Max Bronstein of Aviva Strategies 45:46

2M ago45:46

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 Note…

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EP 201: The gene therapy playbook: Successes, setbacks, and the path forward with Richard Wilson of Astellas 47:28

3M ago47:28

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…

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EP 200: From predictions to breakthroughs in genetics and biotech 34:40

3M ago34:40

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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 …

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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 36:31

3M ago36:31

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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-t…

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EP 198: Reimagining clotting disorders: Patient voices and “unreasonable” leadership with Benny Sorenson of Hemab Therapeutics 43:52

3M ago43:52

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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 …

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EP 197: From biobanks to breakthroughs: Linking genomics to drug discovery with Heiko Runz of insitro 39:41

4M ago39:41

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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 m…

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EP 196: A new vision for sequencing: In-sample multiomics and precision medicine with Molly He 47:02

4M ago47:02

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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 Geneti…

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EP 195: From junk to therapy: The untapped power of regulatory RNAs with David Bumcrot of CAMP4 Therapeutics 41:32

4M ago41:32

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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 complexit…

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EP 194: Ontologies, diagnostics, and genomics for all with Melissa Haendel of UNC Chapel Hill 42:51

4M ago42:51

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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-…

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EP 193: Targeting autophagy to treat neurodegeneration with Frank Gentile of Casma Therapeutics 38:42

4M ago38:42

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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…

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EP 192: From $88 to breakthroughs: Innovation in retinal gene therapy with Dr. Huma Qamar of Ocugen 34:59

5M ago34:59

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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 pigm…

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EP 191: Uncovering hidden histories and health insights from the Mexican Biobank with Andres Moreno-Estrada of LANGEBIO 41:52

5M ago41:52

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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 pu…

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EP 190: Targeting regeneration to tackle Duchenne Muscular Dystrophy with Frank Gleeson of Satellos 48:50

5M ago48:50

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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…

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EP 189: From genetic heritability in twins to gut health with Tim Spector of King’s College London and Zoe 47:56

6M ago47:56

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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. Sho…

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EP 188: Cracking the code of autism through genetics with Daniel Geschwind of UCLA 59:54

6M ago59:54

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 as…

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EP 187: Rethinking germline gene editing and revolutionizing women’s fertility with Helen O’Neill 38:38

6M ago38:38

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 stubbo…

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EP 186: Unpacking the science and myths around obesity and health with geneticist and author Giles Yeo 50:15

6M ago50:15

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 effect…

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EP 185: From newborn screening to lifelong data in an evolving genomics landscape with Madhuri Hegde of Revvity 40:44

7M ago40:44

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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 …

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EP 184: Rethinking speed and scale in clinical genomics with Euan Ashley of Stanford University 42:56

7M ago42:56

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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 sequen…

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EP 183: Rewriting the Rules for Ultra-Rare Diseases with Kent Rogers of EveryONE Medicines 40:07

7M ago40:07

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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 thera…

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EP 182: Demystifying genetic counseling with Matt Burgess 48:28

7M ago48:28

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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 Podcas…

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EP 181: Transforming frustration into breakthroughs in gene therapy with Salvador Rico of Encoded Therapeutics 45:30

7M ago45:30

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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 Podcast…

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EP 180: From a consulting project to a biotech start-up with Leeland Ekstrom of Nashville Bio 41:24

8M ago41:24

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This week on The Genetics Podcast, Patrick is joined by Leeland Ekstrom, CEO and co-founder of Nashville Bio. They discuss how Leeland went from being a consultant on a project for Vanderbilt University to a co-founder of a start-up and the unique aspects of NashBio’s clinical and genetic database. Show Notes: 0:00 Intro to The Genetics Podcast 00:…

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EP 179: Redefining rare disease realities with Sharon Terry of the Genetic Alliance 42:08

8M ago42:08

42:08

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. Show Notes: 0:00 Intro to The Ge…

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EP 178: Expanding the human proteome to facilitate drug discovery with John Lepore of ProFound Therapeutics 39:37

8M ago39:37

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This week on The Genetics Podcast, Patrick is joined by Dr. John Lepore, physician-scientist and CEO of ProFound Therapeutics. They discuss ProFound Tx’s mission to expand the proteome to identify novel drug targets – which resulted in the ProFoundry atlas – and the ways in which John’s diverse experiences inform his approach as a leader. Show Note…

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EP 177: The vision of Our Future Health with Raghib Ali 43:16

8M ago43:16

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This week on The Genetics Podcast, Patrick is joined by Raghib Ali, CEO, CMO, and Principal Investigator of Our Future Health UK. As a clinical epidemiologist with a passion for reducing health inequalities, Raghib offers fresh insights into the priorities, challenges, and transformative impact of the groundbreaking genomics initiative, Our Future …

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EP 176: Hunting rare kidney disease mutations with Anthony Bleyer of Wake Forest and Stan Kmoch of Charles University 38:24

9M ago38:24

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This week on The Genetics Podcast, we’re celebrating Rare Disease Day with a very special episode. Patrick is joined by clinical nephrologist Anthony Bleyer and geneticist Stan Kmoch to discuss how their decade-long international collaboration has uncovered genetic mutations in families with rare inherited kidney diseases – including Patrick’s. Sho…

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EP 175: Pioneering treatment for stop codon disease using tRNA with Michelle Werner of Alltrna 44:45

9M ago44:45

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This week on The Genetics Podcast, Patrick is joined by Michelle Werner, CEO at Alltrna and CEO/Partner at Flagship Pioneering. They discuss Alltrna’s promising findings from its first preclinical study on using tRNA to rescue stop codon disease, the strategic use of basket trials, and more! Show Notes: 0:00 Intro to The Genetics Podcast 01:00 Welc…

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EP 174: Decentralized science and reducing the cost of gene therapies with Jocelynn Pearl of the TAM Center 46:08

9M ago46:08

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On this week’s episode of The Genetics Podcast, we’re joined by Jocelynn Pearl, Director of Cancer Cell Therapy at the TAM Center, host of the Lady Scientist Podcast and Co-Founder of LabDAO. Patrick and Jocelynn discuss her move to Mexico to help accelerate the development of new cancer therapies, harnessing the power and potential of decentralize…

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EP 173: Tackling genetic cardiomyopathy from the bed to the bench with Eric Adler of Lexeo Therapeutics and UCSD 41:11

9M ago41:11

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Summary: This week on The Genetics Podcast, Patrick is joined by Eric Adler, Chief Medical Officer and Head of Research at Lexeo Therapeutics and Professor of Medicine at University of California San Diego. Eric shares his experience with genetic cardiomyopathy and his work on gene therapy for Danon disease, drawing from both clinical and research …

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EP 172: Racial health disparities in genetic testing and breast cancer treatment with Dr. Versha Pleasant of University of Michigan 48:48

10M ago48:48

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This week on The Genetics Podcast, Patrick is joined by Versha Pleasant, Clinical Assistant Professor in the Department of Obstetrics and Gynecology, University of Michigan and Director of the Cancer Genetics and Breast Health Clinic at Von Voigtlander Women’s Hospital. They discuss ongoing disparities in healthcare, in particular why black women i…

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EP 171: The past, present, and future of long-read sequencing with Jonathon Hill of Wasatch Biolabs 35:13

10M ago35:13

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This week on The Genetics Podcast, Patrick is joined by Jonathon Hill, associate professor at Brigham Young University and co-founder and VP of Wasatch Biolabs. Jonathan and Patrick discuss the power of long-read sequencing, how Wasatch Biolabs was created, and how Jonathon has fostered valuable collaborations between academic labs and Wasatch Biol…

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EP 170: Pan-European collaboration and dementia research with Angela Bradshaw, from Alzheimer Europe 42:25

10M ago42:25

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This week on The Genetics Podcast, Patrick is joined by Angela Bradshaw, Director for Research at Alzheimer Europe and honorary lecturer at the University of Glasgow. Patrick and Angela discuss how Alzheimer Europe partners in and support pan-European dementia research, the enormous heterogeneity of dementia and Alzheimer’s disease, the future of p…

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EP 169: Common variants in rare neurological diseases with Hilary Martin of the Wellcome Sanger Institute 45:39

10M ago45:39

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This week on The Genetics Podcast, we’re joined by Hilary Martin, Group Leader in Human Genetics at the world-renowned Wellcome Sanger Institute. Hilary and Patrick discuss her group’s work on neurodevelopmental conditions, the role of common genetic variants in rare disease, and how to untangle the impact of direct and indirect genetic influences …

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EP 168: A world-first in RNA medicines with Erik Ingelsson, Chief Scientific Officer at Wave Life Sciences 37:54

11M ago37:54

37:54

Happy New Year! In our first episode of 2025, Patrick is joined by Erik Ingelsson, Chief Scientific Officer at Wave Life Sciences. Erik is also the formerr Senior Vice President of Target Discovery at GlaxoSmithKline and a former Professor at Stanford and Uppsala universities. Patrick and Erik discuss Wave’s world-first discovery in RNA editing the…

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EP 167: Research Roundup with Dr. Veera: Wrapping up 2024 in four pioneering papers 1:15:45

11M ago1:15:45

1:15:45

Join us as we welcome back Dr. Veera Rajagopal, a discovery scientist at Regeneron with an interest in human genetics and drug target discovery in neuroscience and psychiatry. If you’re a regular listener, you may be familiar with Veera’s quarterly appearances on the show, where Patrick and he discuss the latest developments in genetics, drug disco…

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EP 166: Developing targeted therapies for ALS with Eric Green from Trace Neuroscience, Maze Therapeutics, and Stanford University 42:55

11M ago42:55

42:55

This week we’re joined by 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. Eric and Patrick discuss Eric’s transition from cardiology to the world of entrepreneurship, the role of highly focused biotech…

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EP 165: Harnessing CRISPR and RNA editing to transform healthcare with Dr. Ness Bermingham 53:04

11M ago53:04

53:04

In this episode, we’re joined by Dr. Ness Bermingham, Operating Partner at Khosla Ventures and Chair of the Board at Korro Bio. A scientist-turned-biotech entrepreneur, Ness is passionate about the power of science to tackle some of healthcare’s biggest challenges.Ness co-founded Intellia Therapeutics, a leader in CRISPR gene editing, and Korro Bio…

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EP 164: Groundbreaking advances in MMR-deficient rectal cancer, liquid biopsies, and precision oncology with Dr. Luis Diaz 47:12

11M ago47:12

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Welcome back to The Genetics Podcast! Today, we’re joined by Dr. Luis Diaz, Head of the Division of Solid Tumor Oncology at Memorial Sloan Kettering and a White House Appointee to the National Cancer Advisory Board. Dr. Diaz’s career has been defined by his commitment to translating cutting-edge cancer genomics into clinical practice.In this episod…