The Genetics Podcast

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

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 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