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 Podcast

01:00 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 diagnosis

06:18 Insights from early genomic newborn screening pilots

11:37 The clinical impact and economic benefits of newborn genomic screening

14:27 How GeneDx combines data, AI, and clinical expertise to improve genomic interpretation

17:44 A vision for a lifelong genomic passport and how it could guide care across every stage of life

20:42 How GeneDx Infinity is unlocking new therapeutic possibilities in genetically linked autism

22:48 How advocacy communities guide patient identification and connect families to opportunities

26:00 Lessons from 23 years at Microsoft that Lisa now applies to leading GeneDx

30:39 How Truveta emerged from the COVID crisis to build a shared-data platform for population-scale health insights

32:13 What excites Lisa most about leading GeneDx and where she sees the biggest opportunities ahead

34:59 Closing remarks

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 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 Podcast

00:59 Welcome to Jeffrey

01:33 Early discovery of the dystrophin gene and how it shaped Duchenne muscular dystrophy (DMD) research

09:07 Efforts to map dystrophin and develop practical diagnostic techniques

12:04 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 strategy

27:23 Current successes and safety challenges in systemic AAV gene therapy for neuromuscular disease

34:44 Prospects and limitations of gene editing for Duchenne and emerging alternatives to AAV micro-dystrophin

44:57 Closing remarks

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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 Podcast

01:00 Welcome to Rachel

01:35 Background of Armatus Bio and the mechanism behind its vectorized RNAi platform

05:31 Advantages of vectorized RNAi over conventional RNAi approaches

08:07 How microRNAs work and how engineered versions enable highly specific gene silencing

10:28 Current preclinical progress at Armatus and next steps toward first-in-human trials

14:06 Lessons on making smart risk decisions in rare disease drug development

17:26 Reflections on two decades of progress, setbacks, and realities in gene therapy

22:07 Hemophilia as a case study in gene therapy missteps and overlooked patient and market realities

25:21 Challenges around product purity and the need for financial innovation

29:23 Why AAV purity is so difficult to achieve and where pre-competitive collaboration could drive improvement

33:32 Rachel’s path from veterinary medicine to gene therapy through a family genetic diagnosis

35:58 Founding the Stop ALD Foundation and advancing lentiviral gene therapy into first-in-human use

39:58 The future potential of vectorized RNAi 

42:00 Closing remarks

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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 Podcast

00:59 Welcome to Slavé

02:09 Slavé’s career path from business information systems to genomics

04:33 How Slavé decided to move from academia to industry

07:52 Scaling and diversifying biobank partnerships to unlock new genetic insights

12:29 Translating biobank data into predictive and preventive medicine

15:14 Discovering protective genetic variants through global biobank studies

19:13 Leveraging population genetics to identify and validate protective drug targets

23:52 Developing an AI tool (MILTON) for integrating multi-omic and clinical data for early disease prediction

28:12 Redefining clinical trials in a presymptomatic and predictive medicine era

30:49 AstraZeneca’s efforts to make large-scale genomics computing sustainable through green algorithm innovation

39:05 AstraZeneca’s open science strategy and global impact of its shared genomics tools

42:10 Fostering critical thinking and avoiding groupthink in large-scale genomics research

45:30 Looking ahead to the next decade of genomics and precision healthcare

50:01 Closing remarks

Find out more

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 Podcast

00:59 Welcome to Ellen

01:52 Ellen’s career path that coincidentally led to her work on otoferlin-related hearing loss

03:22 Mechanism and advantages of the dual adenoassociated virus (AAV) system 

05:35 The genetic landscape of early-onset hearing loss and why otoferlin stands out

07:42 Why otoferlin-related deafness is an ideal target for postnatal gene therapy development

09:53 Potential next gene therapy targets beyond otoferlin and associated challenges

13:13 Carrier and newborn screening as approaches to preventing hereditary hearing loss

14:37 How far the field is from prenatal gene therapy and why it remains unlikely in the near term

16:07 Exploring gene-agnostic and protective approaches to prevent or slow hearing loss

18:22 How genetics and environment interact in age-related hearing loss

20:00 Current research focus of Ellen’s group on degenerative hearing loss genes and uncovering cell death mechanisms

22:05 Using mouse models and human organoids to study hearing loss mechanisms

23:42 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 neurotransmitters

29:21 Comparing outcomes of gene therapy and cochlear implants for hearing restoration and differences across languages

34:20 Closing remarks

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