Claim OwnershipThe Genetics Podcast
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Exploring all things genetics. Dr Patrick Short, University of Cambridge alumnus and CEO of Sano Genetics, analyses the science, interviews the experts, and discusses the latest findings and breakthroughs in genetic research. To find out more about Sano Genetics and its mission to accelerate the future of precision medicine visit: www.sanogenetics.com
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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 medicine, and where prevention and adult genomic screening may fit into the future of healthcare.Show Notes0:00 Intro to The Genetics Podcast00:59 Welcome to Anna01:34 Choosing between whole genome, exome, panels, and long-read sequencing in clinical practice04:05 Evaluating long-read sequencing in the clinic 06:37 What long-read sequencing adds to diagnostic yield09:15 The role of RNA sequencing, proteomics, and methylation profiling as complementary tools in clinical genomics13:07 Building a coordinated national infrastructure for clinical genomics and rare disease research in Sweden18:20 The shift toward precision therapeutics and new standards for clinical actionability23:18 Using national genomic data and registries to make Sweden trial-ready for precision therapies27:01 Moving beyond monogenic models to capture polygenic and borderline signals in clinical genomics30:44 Genomics for prevention including adult screening and pharmacogenomics36:23 Anna’s research priorities for the next phase of genomic medicine and structural variant discovery38:32 Closing remarksFind out more:Long-read sequencing studyMoving beyond monogenic disease paperPlease consider rating and reviewing us on your chosen podcast listening platform!
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 real-world implementation in healthcare.Show Notes: 0:00 Intro to The Genetics Podcast00:58 Welcome to Matthew01:41 Matthew’s path from an MD-PhD to founding a personalized cancer vaccine biotech09:06 From personal tragedy to leading jscreen to expand access to reproductive carrier screening 17:11 Purpose, grief, and how Matthew has led jscreen in honor of his daughter20:38 The implementation gap between genomic potential and real-world preventive screening 23:33 Nonprofit models, reimbursement barriers, and building sustainable access to preventive genetic screening28:27 Lessons from the Jewish community’s experience with Tay-Sachs and gaps in understanding33:05 Preconception carrier screening and the role of community in preventive health38:04 Closing remarksFind out more: jscreen
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 Epstein–Barr virus signals from large-scale human genomic datasets, how measuring viral persistence in UK Biobank data reveals insights into autoimmune disease risk and host genetic control, and what this work means for understanding the long-term impact of chronic viral infections on human health.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Ryan and Caleb01:58 How a Twitter DM led to a long-term collaboration03:10 Rescuing Epstein–Barr virus (EBV) sequences from human whole genome data 04:45 Quantifying EBV persistence in UK Biobank, validating the signal, and uncovering links to autoimmune disease12:00 Computational virology, chronic viral effects on human disease, and extending the approach to the broader human virome16:59 Design considerations for population genomics programs to better capture chronic viral effects on human disease21:30 Genetic, viral strain, and environmental factors that shape EBV persistence and immune control26:09 Future directions for EBV research and expanding beyond European ancestry cohorts29:46 Focus areas of Ryan’s research including rare variant genetics, neurological disease mechanisms, and pediatric population genomics33:49 Focus areas of Caleb’s research including the human virome and expanding sequencing technologies to detect uncharacterized nucleic acids37:03 Where genomic “dark matter” may underlie unexplained cancer and severe disease38:46 Gaps in non-coding variant interpretation and incomplete penetrance in unsolved genetic disease42:01 Closing remarksFind out more:Ryan’s research groupCaleb’s research group
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 sequencing is reshaping diagnosis, variant interpretation, and the future of genetic medicine.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Nicky02:09 Overview of the non-coding genome and its functional elements03:59 How small nuclear RNAs drive splicing and exon recognition04:54 Overview of the major and minor spliceosomes and the role of small nuclear RNAs in intron removal06:34 Discovery of recurrent de novo RNU4-2 mutations in developmental disorders through large-scale genomics data12:18 Growth of patient advocacy groups and global networks following the discovery of ReNU syndrome14:43 Potential for antisense oligonucleotide therapies for ReNU syndrome16:06 Clinical endpoints, treatment timing, and biomarker development for ReNU18:32 Impact of RNU4-2 discovery on exome design, genome sequencing adoption, and targeted testing strategies19:52 Distinct dominant, recessive, and retinal phenotypes arising from variants within RNU4-222:15 Open questions on mutation rates and selection in spliceosomal small nuclear RNAs25:25 Limits of non-coding variant discovery and the unresolved genetic burden in developmental disorders29:52 Therapeutic upregulation strategies targeting untranslated regions in haploinsufficiency 33:40 The MRC Centre of Research Excellence in Therapeutic Genomics’ approach to scalable genetic medicines35:54 Long-term prospects and delivery challenges for gene editing approaches 36:56 Newborn genome screening, actionability debates, and implications for rare disease diagnosis40:25 Population genomics insights from unascertained newborn genome sequencing cohorts42:04 Closing remarksFind out more: ReNU discovery paper
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-generation delivery technologies mean for safety, cost, and the future of gene therapy.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to David and Steven01:47 David and Steven’s overlapping academic paths and long-term collaboration03:39 Steven’s research on AAV engineering for central nervous system (CNS) gene therapy04:50 Forge Biologics’ platform approach to scalable AAV manufacturing06:28 How AAV vectors are manufactured08:24 How CNS AAV vectors are designed, tested, and refined across programs10:58 How manufacturing quality and trial outcomes can shape AAV development decisions15:13 Factors that impact the ratio of full versus empty AAV capsids17:21 Manufacturing scale, capsid efficiency, and the future cost curve of AAV gene therapy24:19 Scaling AAV manufacturing for common diseases and the shift toward industrialized production models27:07 Engineered AAV capsids for CNS delivery and the tradeoffs between innovation and platform stability30:31 Next-generation AAV delivery and gene editing technologies34:41 Lessons from Jude Samulski on translating AAV science into real-world therapies37:21 Closing remarksFind out more: Forge Biologics
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 Intro to The Genetics Podcast00:59 Welcome to Daniel01:57 Daniel’s firsthand experience with the development and approval of Luxturna for inherited retinal dystrophy06:13 Factors contributing to delays in approval for gene therapies in recent years 08:13 Overview of ocular diseases and their suitability for gene therapy11:40 Why Daniel joined Beacon Therapeutics and current priorities for the lead program13:22 Key challenges in designing and executing a pivotal gene therapy trial for X-linked retinitis pigmentosa (XLRP)15:49 Lessons from prior inherited retinal disease trials and selecting the right clinical endpoints21:03 Expanding beyond the lead program into earlier patients and additional ocular indications23:43 AAV packaging constraints and managing immunogenicity in ocular gene therapy26:29 Lessons from academia–industry collaboration in developing gene therapies28:23 Access to genetic testing in inherited retinal diseases and remaining gaps32:10 Key scientific, regulatory, and commercial challenges facing gene therapy today35:39 Closing remarksFind out more:Beacon TherapeuticsPlease consider rating and reviewing us on your chosen podcast listening platform!
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 infrastructure, policy, and equitable implementation at scale.Show Notes: 0:00 Intro to The Genetics Podcast01:00 Welcome to Zornitza01:55 Methods and findings of the BabyScreen+ study 04:35 Scaling the BabyScreen+ study from pilot to population screening07:46 Balancing benefits, risks, and downstream implications in genomic newborn screening15:55 How the genes tested in BabyScreen+ were selected19:00 Cascade testing and the family-wide implications of genomic newborn screening22:05 What large-scale genomic newborn screening could reveal about penetrance 23:57 Expanding genomic newborn screening over time and addressing equity, scale, and long-term value27:47 Rapid genomic sequencing in critically ill newborns from pilot studies to national implementation34:32 Building evidence infrastructure to interpret variants and support reimbursement decisions37:25 Why global data sharing in genomics requires policy alignment and sustained infrastructure investment39:55 Current priorities and the future direction of genomics in Australia42:14 Closing remarksFind out more:BabyScreen+ studyPlease consider rating and reviewing us on your chosen podcast listening platform!
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 considerations around trial design, patient needs, and delivering therapies at scale.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Michelle and Mike01:26 Overview of Alltrna’s therapeutic approach to rare genetic diseases using engineered tRNAs03:19 Overview of Tessera Therapeutics’ gene writing approach04:51 Preclinical evidence supporting first-in-human testing of Alltrna’s lead candidate07:50 Why Tessera’s preclinical models are predictive of clinical success10:40 Key features that differentiate Tessera’s RNA-based gene writing14:02 Advantages of using basket trials for engineered tRNAs18:00 Clinical trial design and early efficacy signals for gene writing in alpha-1 antitrypsin deficiency21:59 Genetic testing, patient identification, and patient advocacy in Alltrna trials24:18 Differentiating Tessera’s gene writing approach for patients and investigators26:35 Site readiness and expertise required for genetic medicine trials28:32 Scaling Alltrna’s platform across mutations, tissues, and diseases32:34 Expanding Tessera’s gene writing platform beyond alpha-1 antitrypsin deficiency35:57 Perspectives on biotech funding, pharma partnerships, and rare disease investment39:08 The data pharma looks for when partnering on novel genetic therapies42:49 Emerging technologies Michelle and Mike are watching beyond their own platforms 47:19 Closing remarksFind out more:Alltrna (https://www.alltrna.com/)Tessera Therapeutics (https://www.tesseratherapeutics.com/)Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
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 redefine cardiovascular care.Show Notes: 0:00 Intro to The Genetics Podcast01:00 Welcome to Travis01:44 Overview of gene editing for inherited cardiovascular disease05:01 Delivery methods and viral capsid engineering to target heart tissue07:29 Role of the titin gene in dilated cardiomyopathy and treatment opportunities10:32 Genetic variants in titin and differences in phenotype13:51 Promising therapeutic approaches for targeting titin 16:21 Possibility of using a mini titin gene for replacement17:31 Sarcomere proteins and their role in cardiomyopathy20:28 Limits of current understanding in heart failure, including cardiac regeneration and congenital heart disease24:50 Predicting drug-induced cardiotoxicity using stem cell models, animal studies, and digital twins30:02 How Travis balances clinical genetics at the University of Connecticut with translational research at the Jackson Laboratory (JAX)32:03 Where genetic testing is used in cardiology today and what’s limiting broader access35:19 Understanding polygenic risk and unexplained heritability in cardiovascular disease37:07 Managing inherited cardiomyopathy risk in families after a pathogenic variant is identified40:36 Genetic testing as a prevention strategy and the public health case for earlier intervention43:03 Balancing early genetic screening with penetrance, uncertainty, and patient anxiety45:51 Closing remarksFind out more:Review on cardiovascular gene editing approaches Please consider rating and reviewing us on your chosen podcast listening platform!
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 Genetics Podcast00:59 Welcome to Beth01:43 Beth’s path from journalism to ancient DNA research04:46 Beth’s first project on American bison and near extinction08:26 How Beth worked on a dodo sample at Oxford and what ancient DNA could reveal11:09 How de-extinction entered the field and why resurrecting species became a scientific goal14:54 Why de-extinction efforts could strengthen ecosystems and accelerate species conservation18:33 How cloning a mammoth works and why genome engineering replaces traditional cloning25:05 Understanding the genome of a woolly mammoth28:06 What functional de-extinction means in practice30:55 Genetic clues behind the woolly mammoth’s coat33:25 The technical hurdles behind de-extinction38:23 Building a stepwise path to de-extinction through near-term conservation tools39:36 Ethics risk management and working with local and Indigenous communities in de-extinction projects44:59 Scientific and technological breakthroughs needed over the next decade to make de-extinction and biodiversity preservation viable49:20 Closing remarksFind out more:Colossal Biosciences (https://colossal.com/)Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
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 Genetics Podcast00:59 Welcome to Graham01:29 The motivations and mission driving Quiver Bioscience04:34 Quiver’s approach to targeting the brain for neurological disease06:58 Nav1.7 as a lead pain program and the mechanisms of pain signaling12:11 Patient population and unmet need in chronic pain 13:37 The Dup15q neurodevelopmental program and recent clinical progress17:29 How the company chooses which diseases to pursue and why genetically validated pain and epilepsy programs lead the pipeline20:10 Modeling pain in a dish and how cellular electrophysiology reveals disease and drug effects27:42 Lessons from building a biotech company29:53 Today’s biotech climate and why Graham is optimistic 31:56 Emerging delivery technologies that could unlock the next wave of oligonucleotide therapies33:51 How molecular shuttles cross the blood–brain barrier and the advantage of a dual target approach37:05 Graham’s path from aspiring sports medicine doctor to building light-based platforms in neuroscience40:15 Graham’s early exposure to biotech leadership and a formative encounter with Roy Vagelos42:09 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! Find out more:Quiver Bioscience (https://www.quiverbioscience.com/)
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 Welcome to Arabella 01:30 Background and structure of the Genetic Frontotemporal Initiative (GENFI) consortium02:48 Scale of the GENFI cohort and the breadth of longitudinal data collected06:06 Clinical signs and progression of frontotemporal dementia (FTD) 10:08 How genetic variants map onto different clinical forms of frontotemporal dementia12:11 Biomarkers in genetic FTD and the challenge of separating neurodegeneration from lifelong brain differences19:36 Mutation-specific cortical microstructure patterns in FTD and what MRI reveals at the earliest stages23:04 Why combining genetics imaging fluid and digital biomarkers is essential for early detection and trials in FTD25:39 How the GENFI consortium is run across more than 50 sites worldwide30:42 How urgency and unmet need drive strong collaboration in the FTD community33:11 Promising developments in FTD therapeutics36:39 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_linkFind out more: GENFI (https://www.genfi.org/)
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 failure and population-specific variants are redefining the future of clinical care.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Krishna 01:40 How a gap year in India deepened Krishna’s interest in health and population genomics06:16 Key advances that reshaped cardiovascular genomics from rare variants to polygenic risk09:18 Where cardiovascular genomics stands today across coronary disease, cardiomyopathies, and arrhythmias14:25 Factors that make heart failure challenging for genomics 17:32 How monogenic variants and polygenic load shape risk in dilated cardiomyopathy23:03 What genetics reveals about the roots of heart failure and why precise phenotypes matter26:12 Using genetic risk to guide earlier treatment and prevent progression to heart failure30:37 Subclinical markers and imaging strategies to track progression toward heart failure32:04 Key research findings on an ancestry-specific genetic driver of dilated cardiomyopathy41:21 Genetic signals highlighting the role of inflammation in coronary artery disease43:11 Building a clinical genomics engine that connects discovery to cardiovascular care47:14 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_linkFind out more: Genetic variants underlying DCM: https://pmc.ncbi.nlm.nih.gov/articles/PMC11631752/ Ancestry-specific CD36 study: https://www.nature.com/articles/s41588-025-02372-2
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 Intro to The Genetics Podcast01:00 Welcome to Lisa and her career path leading to joining GeneDx 03:27 The core components of GeneDx and how they drive early rare disease diagnosis06:18 Insights from early genomic newborn screening pilots11:37 The clinical impact and economic benefits of newborn genomic screening14:27 How GeneDx combines data, AI, and clinical expertise to improve genomic interpretation17:44 A vision for a lifelong genomic passport and how it could guide care across every stage of life20:42 How GeneDx Infinity is unlocking new therapeutic possibilities in genetically linked autism22:48 How advocacy communities guide patient identification and connect families to opportunities26:00 Lessons from 23 years at Microsoft that Lisa now applies to leading GeneDx30:39 How Truveta emerged from the COVID crisis to build a shared-data platform for population-scale health insights32:13 What excites Lisa most about leading GeneDx and where she sees the biggest opportunities ahead34:59 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
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-dystrophin and systemic AAV delivery in Duchenne, and the major scientific and clinical challenges the field must now solve.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Jeffrey01:33 Early discovery of the dystrophin gene and how it shaped Duchenne muscular dystrophy (DMD) research09:07 Efforts to map dystrophin and develop practical diagnostic techniques12:04 How research in Jeffrey’s lab gradually led to the creation of micro-dystrophin 20:15 How micro-dystrophin and AAV delivery converged into a viable systemic gene therapy strategy27:23 Current successes and safety challenges in systemic AAV gene therapy for neuromuscular disease34:44 Prospects and limitations of gene editing for Duchenne and emerging alternatives to AAV micro-dystrophin44:57 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
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 mechanism behind its vectorized RNAi platform05:31 Advantages of vectorized RNAi over conventional RNAi approaches08:07 How microRNAs work and how engineered versions enable highly specific gene silencing10:28 Current preclinical progress at Armatus and next steps toward first-in-human trials14:06 Lessons on making smart risk decisions in rare disease drug development17:26 Reflections on two decades of progress, setbacks, and realities in gene therapy22:07 Hemophilia as a case study in gene therapy missteps and overlooked patient and market realities25:21 Challenges around product purity and the need for financial innovation29:23 Why AAV purity is so difficult to achieve and where pre-competitive collaboration could drive improvement33:32 Rachel’s path from veterinary medicine to gene therapy through a family genetic diagnosis35:58 Founding the Stop ALD Foundation and advancing lentiviral gene therapy into first-in-human use39:58 The future potential of vectorized RNAi 42:00 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
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 genomic research.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Slavé02:09 Slavé’s career path from business information systems to genomics04:33 How Slavé decided to move from academia to industry07:52 Scaling and diversifying biobank partnerships to unlock new genetic insights12:29 Translating biobank data into predictive and preventive medicine15:14 Discovering protective genetic variants through global biobank studies19:13 Leveraging population genetics to identify and validate protective drug targets23:52 Developing an AI tool (MILTON) for integrating multi-omic and clinical data for early disease prediction28:12 Redefining clinical trials in a presymptomatic and predictive medicine era30:49 AstraZeneca’s efforts to make large-scale genomics computing sustainable through green algorithm innovation39:05 AstraZeneca’s open science strategy and global impact of its shared genomics tools42:10 Fostering critical thinking and avoiding groupthink in large-scale genomics research45:30 Looking ahead to the next decade of genomics and precision healthcare50:01 Closing remarksFind out moreMILTON (https://www.astrazeneca.com/r-d/our-technologies/machine-learning-drug-discovery.html)PheWAS Portal (https://azphewas.com/)Upcoming webcast with deep dive into MILTON & PheWAS (https://www.nature.com/articles/d44224-025-00033-7)Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
1This 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 career path that coincidentally led to her work on otoferlin-related hearing loss03:22 Mechanism and advantages of the dual adenoassociated virus (AAV) system 05:35 The genetic landscape of early-onset hearing loss and why otoferlin stands out07:42 Why otoferlin-related deafness is an ideal target for postnatal gene therapy development09:53 Potential next gene therapy targets beyond otoferlin and associated challenges13:13 Carrier and newborn screening as approaches to preventing hereditary hearing loss14:37 How far the field is from prenatal gene therapy and why it remains unlikely in the near term16:07 Exploring gene-agnostic and protective approaches to prevent or slow hearing loss18:22 How genetics and environment interact in age-related hearing loss20:00 Current research focus of Ellen’s group on degenerative hearing loss genes and uncovering cell death mechanisms22:05 Using mouse models and human organoids to study hearing loss mechanisms23:42 Emerging gene editing approaches 25:20 Ellen’s research journey from biochemistry to leading gene therapy research in hearing loss 27:54 Unanswered questions about how inner hair cells release neurotransmitters29:21 Comparing outcomes of gene therapy and cochlear implants for hearing restoration and differences across languages34:20 Closing remarksPlease consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
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 type 1 (ADH1) program, and how portfolio design and predictive genomics are shaping the future of precision medicine.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Ananth & Sun-Gou01:57 How BridgeBio’s hub-and-spoke model de-risks and accelerates rare disease drug development06:45 How programs move from the hub to the spokes in target discovery and development09:10 Translating a target into a therapy for autosomal dominant hypocalcemia type 1 (ADH1)12:28 Challenges in ADH1 drug development and using population genetics to identify patients with gain-of-function variants18:08 Under-diagnosis and incomplete penetrance in rare disease and quantifying genetic versus phenotypic prevalence20:52 Balancing first-in-class innovation with risk management in rare disease drug development24:24 Evaluating rare disease programs using risk-adjusted net present value (NPV) instead of peak sales27:20 Key factors that can make rare disease programs faster and cheaper to develop, and why modality agnosticism is important32:00 Sun-Gou’s experience in computational genetics and building data-driven infrastructure for discovery36:44 Ananth’s lessons from Regeneron and applying patient-centered principles to rare disease drug development39:00 Sun-Gou on the power of newborn sequencing and personal lessons from early diagnosis43:36 Ananth’s views on making predictive medicine more personal and human-centered44:51 Closing remarksFind out moreBridgeBio (https://bridgebio.com/unlocking-rare-diseases-medicine)Hub-and-spoke model (https://www.youtube.com/watch?v=gRURL49QsX4)ADH1 publication (https://www.cell.com/ajhg/fulltext/S0002-9297(25)00244-7)Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
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 approaches currently in development.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Justin01:39 How Justin’s daughter’s Usher syndrome diagnosis (USH1B) led to the founding of Safe Sight Now and a mission to accelerate research05:23 Biggest hurdles to therapeutic development for USH1B08:36 Progress in the research with new animal models and advances in clinical endpoint development10:25 How Justin applied design thinking and AI to rapidly learn rare disease science12:38 Advances in gene delivery approaches for USH1B15:45 Therapeutic intervention windows in USH1B with early treatment for hearing loss and later options for addressing vestibular and visual impairments18:32 Save Sight Now’s plans for the next phase of clinical translation and sustainable growth20:50 Why Justin decided to establish Save Sight Now as an independent nonprofit22:27 The need for stronger collaboration between patient organizations and biotech companies25:50 Building global collaborations to expand Save Sight Now’s reach28:00 How the community can support Save Sight Now’s mission and upcoming fundraising gala28:59 Closing remarksFind out moreSave Sight Now (https://www.savesightnow.org/)Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link
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that was amazing I really appreciate you