The Genetics Podcast

Sano Genetics
  • 4.8 (50)
  • NATURAL SCIENCES
  • UPDATED BIWEEKLY

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

  1. EP 232: How ethics and law shape reproductive technology and AI in medicine with Glenn Cohen of Harvard Law School

    2D AGO

    EP 232: How ethics and law shape reproductive technology and AI in medicine with Glenn Cohen of Harvard Law School

    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 Podcast 00:59 Welcome to Glenn 01:35 An overview of the courses Glenn teaches at Harvard Law School 02:29 Glenn’s areas of expertise across biomedical ethics 03:20 Ethical considerations around reproductive medicine and polygenic risk scores 10:37 Regulatory uncertainty and limited oversight in reproductive genetics 13:18 Liability, regulation, and real-world implementation challenges for AI in healthcare 14:52 Risk–benefit framework for evaluating AI use in clinical settings 17:19 Glenn’s experience contributing to landmark Supreme Court cases in biotechnology and health law 20:09 Glenn’s perspective on mitochondrial replacement and its regulatory divide between the UK and US 22:20 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!

    24 min
  2. EP 231: From polygenic scores to AI-driven medicine with Andrea Ganna of the Institute for Molecular Medicine Finland

    MAR 19

    EP 231: From polygenic scores to AI-driven medicine with Andrea Ganna of the Institute for Molecular Medicine Finland

    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 data infrastructure enables for population-scale studies, and how genetics can be used to strengthen trial emulation in observational data. Show Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to Andrea 01:51 Andrea’s research focuses, including polygenic scores in biobanks and AI applications  03:02 Complementarity between polygenic scores and electronic health record–derived risk signals across biobanks 04:47 Using polygenic risk scores for prognostic versus predictive enrichment in clinical trials 10:28 Limitations and opportunities of using AI models on large-scale electronic health records 15:47 Legal, data infrastructure, and privacy barriers to building AI models on health records 18:04 Choosing model architectures for healthcare AI  19:47 Using AI and multi-omics data to integrate biological knowledge and the challenge of learning causality 21:43 How removing genetic effects from proteins improves disease prediction and highlights the role of environment 24:42 Finland’s health data ecosystem and national biobanks 28:11 Using genetics to improve trial emulation in biobank data and observational studies 33:42 Closing remarks Find out more: Trial emulation study Polygenic scores study Please consider rating and reviewing us on your chosen podcast listening platform!

    36 min
  3. EP 230: From short reads to long reads in clinical genomics with Anna Lindstrand of Karolinska Institute

    MAR 12

    EP 230: From short reads to long reads in clinical genomics with Anna Lindstrand of Karolinska Institute

    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 Notes 0:00 Intro to The Genetics Podcast 00:59 Welcome to Anna 01:34 Choosing between whole genome, exome, panels, and long-read sequencing in clinical practice 04:05 Evaluating long-read sequencing in the clinic  06:37 What long-read sequencing adds to diagnostic yield 09:15 The role of RNA sequencing, proteomics, and methylation profiling as complementary tools in clinical genomics 13:07 Building a coordinated national infrastructure for clinical genomics and rare disease research in Sweden 18:20 The shift toward precision therapeutics and new standards for clinical actionability 23:18 Using national genomic data and registries to make Sweden trial-ready for precision therapies 27:01 Moving beyond monogenic models to capture polygenic and borderline signals in clinical genomics 30:44 Genomics for prevention including adult screening and pharmacogenomics 36:23 Anna’s research priorities for the next phase of genomic medicine and structural variant discovery 38:32 Closing remarks Find out more: Long-read sequencing study Moving beyond monogenic disease paper Please consider rating and reviewing us on your chosen podcast listening platform!

    40 min
  4. EP 229: Turning personal tragedy into a movement for preventive genetics with Matthew Goldstein of jscreen

    MAR 5

    EP 229: Turning personal tragedy into a movement for preventive genetics with Matthew Goldstein of jscreen

    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 Podcast 00:58 Welcome to Matthew 01:41 Matthew’s path from an MD-PhD to founding a personalized cancer vaccine biotech 09:06 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 daughter 20:38 The implementation gap between genomic potential and real-world preventive screening  23:33 Nonprofit models, reimbursement barriers, and building sustainable access to preventive genetic screening 28:27 Lessons from the Jewish community’s experience with Tay-Sachs and gaps in understanding 33:05 Preconception carrier screening and the role of community in preventive health 38:04 Closing remarks Find out more: jscreen

    40 min
  5. EP 228: What genomes reveal about Epstein–Barr virus and human disease with Ryan Dhindsa and Caleb Lareau

    FEB 26

    EP 228: What genomes reveal about Epstein–Barr virus and human disease with Ryan Dhindsa and Caleb Lareau

    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 Podcast 00:59 Welcome to Ryan and Caleb 01:58 How a Twitter DM led to a long-term collaboration 03:10 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 disease 12:00 Computational virology, chronic viral effects on human disease, and extending the approach to the broader human virome 16:59 Design considerations for population genomics programs to better capture chronic viral effects on human disease 21:30 Genetic, viral strain, and environmental factors that shape EBV persistence and immune control 26:09 Future directions for EBV research and expanding beyond European ancestry cohorts 29:46 Focus areas of Ryan’s research including rare variant genetics, neurological disease mechanisms, and pediatric population genomics 33:49 Focus areas of Caleb’s research including the human virome and expanding sequencing technologies to detect uncharacterized nucleic acids 37:03 Where genomic “dark matter” may underlie unexplained cancer and severe disease 38:46 Gaps in non-coding variant interpretation and incomplete penetrance in unsolved genetic disease 42:01 Closing remarks Find out more: Ryan’s research group Caleb’s research group

    46 min
  6. EP 227: Discovering a new neurodevelopmental syndrome in the non-coding genome with Nicky Whiffin of the University of Oxford

    FEB 19

    EP 227: Discovering a new neurodevelopmental syndrome in the non-coding genome with Nicky Whiffin of the University of Oxford

    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 Podcast 00:59 Welcome to Nicky 02:09 Overview of the non-coding genome and its functional elements 03:59 How small nuclear RNAs drive splicing and exon recognition 04:54 Overview of the major and minor spliceosomes and the role of small nuclear RNAs in intron removal 06:34 Discovery of recurrent de novo RNU4-2 mutations in developmental disorders through large-scale genomics data 12:18 Growth of patient advocacy groups and global networks following the discovery of ReNU syndrome 14:43 Potential for antisense oligonucleotide therapies for ReNU syndrome 16:06 Clinical endpoints, treatment timing, and biomarker development for ReNU 18:32 Impact of RNU4-2 discovery on exome design, genome sequencing adoption, and targeted testing strategies 19:52 Distinct dominant, recessive, and retinal phenotypes arising from variants within RNU4-2 22:15 Open questions on mutation rates and selection in spliceosomal small nuclear RNAs 25:25  Limits of non-coding variant discovery and the unresolved genetic burden in developmental disorders 29:52 Therapeutic upregulation strategies targeting untranslated regions in haploinsufficiency  33:40 The MRC Centre of Research Excellence in Therapeutic Genomics’ approach to scalable genetic medicines 35:54 Long-term prospects and delivery challenges for gene editing approaches  36:56 Newborn genome screening, actionability debates, and implications for rare disease diagnosis 40:25 Population genomics insights from unascertained newborn genome sequencing cohorts 42:04 Closing remarks Find out more: ReNU discovery paper

    43 min
  7. 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

    EP 226: Scaling AAV gene therapy: Engineering delivery, safety, and cost with David Dismuke of Forge Biologics and Steven Gray of UT Southwestern

    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 Podcast 00:59 Welcome to David and Steven 01:47 David and Steven’s overlapping academic paths and long-term collaboration 03:39 Steven’s research on AAV engineering for central nervous system (CNS) gene therapy 04:50 Forge Biologics’ platform approach to scalable AAV manufacturing 06:28 How AAV vectors are manufactured 08:24 How CNS AAV vectors are designed, tested, and refined across programs 10:58 How manufacturing quality and trial outcomes can shape AAV development decisions 15:13 Factors that impact the ratio of full versus empty AAV capsids 17:21 Manufacturing scale, capsid efficiency, and the future cost curve of AAV gene therapy 24:19 Scaling AAV manufacturing for common diseases and the shift toward industrialized production models 27:07 Engineered AAV capsids for CNS delivery and the tradeoffs between innovation and platform stability 30:31 Next-generation AAV delivery and gene editing technologies 34:41 Lessons from Jude Samulski on translating AAV science into real-world therapies 37:21 Closing remarks Find out more: Forge Biologics

    39 min
  8. EP 225: Lessons from 20 years of building ocular gene therapies with Daniel Chung of Beacon Therapeutics

    FEB 5

    EP 225: Lessons from 20 years of building ocular gene therapies with Daniel Chung of Beacon Therapeutics

    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 Podcast 00:59 Welcome to Daniel 01:57 Daniel’s firsthand experience with the development and approval of Luxturna for inherited retinal dystrophy 06:13 Factors contributing to delays in approval for gene therapies in recent years  08:13 Overview of ocular diseases and their suitability for gene therapy 11:40 Why Daniel joined Beacon Therapeutics and current priorities for the lead program 13:22 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 endpoints 21:03 Expanding beyond the lead program into earlier patients and additional ocular indications 23:43 AAV packaging constraints and managing immunogenicity in ocular gene therapy 26:29 Lessons from academia–industry collaboration in developing gene therapies 28:23 Access to genetic testing in inherited retinal diseases and remaining gaps 32:10 Key scientific, regulatory, and commercial challenges facing gene therapy today 35:39 Closing remarks Find out more: Beacon Therapeutics Please consider rating and reviewing us on your chosen podcast listening platform!

    37 min
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About

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

Information

  • Creator
    Sano Genetics
  • Years Active
    2019 - 2026
  • Episodes
    232
  • Rating
    Clean
  • Copyright
    © Sano Genetics
  • Show Website
    The Genetics Podcast

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