The Genetics Podcast

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

  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 viable.Show Notes: 0:00 Intro to The Genetics Podcast00:58 Welcome to Terry01:24 The beginning of Terry’s gene therapy journey after his son Michael was diagnosed with SPG5003:24 Learning the biotech industry and building a gene therapy team05:17 Terry’s experience with learning about gene therapy without a scientific background06:42 The process of building a gene therapy in under three years during the COVID-19 pandemic09:30 Fundraising through community support and major donors11:06 Expanding access of Michael’s gene therapy to children all over the world12:32 The creation of Elpida Therapeutics to develop non-commercially viable therapies and adapting to a challenging funding landscape15:24 Insight into cost, accessibility, and the role of endpoints and manufacturing20:06 Learning from safety events as gene therapy scales and the importance of considering the risk/reward ratio in rare disease23:24 Landscape of precision therapeutics available today beyond AAV vectors27:09 Designing trials at Elpida to demonstrate efficacy in ultra-rare disease29:24 Adapting meaningful endpoints to disease progression and FDA flexibility 34:02 Background of Priority Review Vouchers and the negative impact of its non-renewal on rare disease funding37:48 Finding optimism in rare disease family initiatives and gene therapy successes, and the future of advanced therapeutics 41:07 How to support the rare disease community and families 44:16 Closing remarksFind out moreElpida Therapeutics (https://www.elpidatx.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

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

  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 the power of the FinnGen biobank. Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Samuli01:48 Samuli’s path from statistics to genetics at the beginning of a new era03:09 Remembering Leena Peltonen and the Human Genetics Summer School05:46 Samuli’s research in lipid and cardiovascular genetics and the power of collaboration09:14 Integrating polygenic risk scores into cardiovascular and breast cancer care14:52 Using medication history in FinnGen to uncover cardiometabolic genetics and predict treatment patterns18:50 The future of polygenic risk scores in predicting prognosis and guiding treatment21:21 The confounding effect of treatment in genetic studies23:14 Overview of FinnGen and its impact on genetics and drug discovery27:04 The next 5 years in proteomics and molecular profiling to move beyond associations29:56 Using polygenic risk scores in clinical trials31:41 Future directions, from refining phenotypes in large biobanks to piloting clinical applications of polygenic risk scores34:04 Scaling population biobanks versus deep phenotyping and why the future requires both35:29 Closing remarksFind out moreGenetic predictors of lifelong medication-use patterns in cardiometabolic diseases (https://www.nature.com/articles/s41591-022-02122-5)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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• EP 203: Building the tools behind modern genomics with Jonathan Marchini of Regeneron

  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 exomes with imputation remain more powerful than whole genomes for discovery at Regeneron.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Jonathan01:47 Jonathan’s career path from teaching in rural Tanzania to genomics research at Oxford04:43 Lessons from the HapMap era and the birth of imputation08:30 Ongoing challenges with data sharing and usable tools 10:30 Handling massive genetic datasets at Regeneron and developing new computational methods to scale15:26 Key discoveries from the million-exome paper18:04 Pushing computational limits in meta-analysis 19:50 Polygenic risk scores in the clinic and their role in trial design23:38 Why Regeneron prioritizes exomes with imputation over whole genomes and what that means for discovery27:58 Where AI truly adds value in genomics and where simpler models still win32:27 Interpreting rare variants, the promise of protein models, and why better phenotyping is key35:31 Closing remarks and opportunities at RegeneronFind out moreRegeneron Genetics Center (https://www.regeneron.com/science/genetics-center)Million exome paper (https://www.nature.com/articles/s41586-024-07556-0)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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• EP 202: Biotech at the intersection of science and politics with Max Bronstein of Aviva Strategies

  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 Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Max01:51 Regulatory shifts and FDA challenges under the new administration05:40 Overview of the regulatory process for therapeutic development and the push for patient-centered trials11:26 Challenges in drug development from regulatory gaps to shifting FDA priorities15:45 Unprecedented government turnover and its impact on biotech industry stability18:32 Status and significance of the pediatric priority review voucher program for rare and ultra-rare disease development22:02 How Congress uses “must-pass bills” to advance or block health policies25:17 Max’s role in creating Advanced Research Projects Agency for Health (ARPA-H) to drive high-risk innovation 30:02 How ARPA-H is funded 31:21 Adapting science policy to politics33:35 Breakthroughs in rare disease therapies and the policy frameworks needed to ensure access37:15 Lessons from the Orphan Drug Act and why new incentives are needed to make ultra-rare disease drug development viable39:23 The push for flexible rare disease trial pathways and the disconnect between FDA rhetoric and practice43:26 Closing remarks and a call to connect for patient organizations and rare disease parentsFind out moreAviva Strategies (https://www.avivastrategies.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

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

  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 precision medicine drug development.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Richard01:33 Current wins and challenges in gene therapy 07:13 The need for more open non-competitive data sharing and a clearer pathway towards reimbursement and incentivization11:15 Building post-approval systems into the genomic medicine lifecycle14:47 Rethinking evidence standards in rare disease trials, and the global push for regulatory and reimbursement alignment20:28 Genetic medicine breakthroughs in central nervous system diseases22:25 The challenges of starting clinical development with an end in mind24:34 The need for careful analysis around endpoints, vector design, and delivery approaches29:33 Navigating regulatory hurdles when making mid-program changes to vectors or payloads31:16 Strategies for enhancing scalability and quality of gene therapy manufacturing 36:05 Exploring other delivery methods beyond AAV39:32 Getting ready for the Timmerman Traverse and raising nearly $1M for Life Science Cares43:48 A call to refocus on patients, partnership, and purpose in uncertain times45:55 Closing remarks Find out moreAstellas (https://www.astellas.com/)Timmerman Traverse fundraising for Life Science Cares (https://timmermantraverse.blackbaud-sites.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

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