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The Genetics Podcast

Sano Genetics
The Genetics Podcast
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5 van 196
  • EP 197: From biobanks to breakthroughs: Linking genomics to drug discovery with Heiko Runz of insitro
    Summary: This week on The Genetics Podcast, Patrick is joined by Heiko Runz, medical geneticist and VP of Neuroscience at insitro. They discuss Heiko’s path into therapeutic genetics, how collaboration and data integration across biobanks led to his discovery of a protective variant for age-related macular degeneration, and the role of cell-based models in drug discovery.Show Notes: 0:00 Intro to The Genetics Podcast00:58 Welcome to Heiko01:41 Heiko’s career path and how he became interested in medical genetics and therapeutic development05:49 Connecting the dots across biobanks for genetic discovery08:23 Heiko’s discovery of a potential gene target for age-related macular degeneration15:29 The challenge of biobank recontact and why it’s essential for follow-up studies18:57 The opportunity for smaller companies to follow up on large-scale genomic discoveries23:00 Advances in cell-based models for neuroscience drug discovery24:40 Heiko’s role in the development of tofersen for SOD1 ALS  28:50 Targeting TDP-43 in ALS through large-scale cell-based phenotyping and drug discovery30:36 Using cell-based phenotypes to functionally test disease mechanisms and validate variants33:58 The potential of AI for refining phenotypes and generating drug hypotheses36:47 Heiko’s advice to early career professionals interested in the field of genetics and drug discovery38:26 Closing remarks Find out moreinsitro (https://www.insitro.com), study on CFHR5 (https://www.nature.com/articles/s41467-025-61193-3)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 196: A new vision for sequencing: In-sample multiomics and precision medicine with Molly He
    This week on The Genetics Podcast, Patrick is joined by Molly He, CEO and co-founder of Element Biosciences. They discuss the current landscape of sequencing technologies, Element’s innovative sequencing platform, and the potential of using in-sample multiomic profiling across different stages of drug discovery. Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Molly01:42 Persistent barriers in precision medicine04:54 Limitations of multiomics technologies and the unique advantage of Element’s approach07:33 How Element started by inventing an ambitious sequencing instrument11:33 Overview of the chemistry behind Element’s sequencing technology14:41 Sequencing workflow of Element’s technology and technical advantages18:24 Sequencing inside cells and drug discovery insights from a study on tyrosine kinase inhibitor (TKI) resistance pathways25:57 Sequencing for CRISPR perturbation and direct genotype–phenotype linkage in the same cell27:33 Whole-transcriptome in situ sequencing and applications in patient samples29:19 Simplifying single-cell transcriptomics with direct in-sample sequencing30:31 Applying the single-cell spatial technology to different steps of the drug discovery process36:43 Competition in the sequencing industry and recent news about Illumina filing a patent infringement case against Element38:43 Lessons from building Element over eight years40:32 Insight into maintaining a cohesive culture as Element has multiplied in size and across countries42:06 The importance of input data quality for AI applications and excitement about the possibility of predicting biology45:40 Closing remarksFind out moreElement Biosciences (https://www.elementbiosciences.com/)Pre-print (https://www.biorxiv.org/content/10.1101/2025.05.06.652479v1)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 195: From junk to therapy: The untapped power of regulatory RNAs with David Bumcrot of CAMP4 Therapeutics
    Summary: This week on The Genetics Podcast, Patrick is joined by David Bumcrot, Chief Scientific Officer of CAMP4 Therapeutics. They discuss David’s involvement in the development of the breakthrough technologies in RNA interference and CRISPR, how CAMP4 is pioneering the use of regulatory RNAs to treat haploinsufficient diseases, and the complexities of gene regulation. Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to David 01:57 David’s experiences at companies that developed RNA interference (RNAi) and CRISPR technologies04:05 Lessons from translating RNAi to the bedside 05:58 The scalable chemistry of RNA versus the complexity of gene editing07:48 Insight into the lack of rapid scalability and growth in gene therapy companies09:19 How CAMP4 is using regulatory RNAs to boost gene expression in haploinsufficient diseases13:01 Mapping and predicting the impact of specific regulatory RNAs on the expression of target genes15:05 Why regulatory RNAs open up new target space without needing new drug modalities16:27 How CAMP4 prioritizes certain diseases based on delivery feasibility and genetic evidence18:31 Understanding expression thresholds in haploinsufficiency and building confidence in therapeutic targets 20:29 Comparing different approaches for increasing gene expression22:39 Other therapeutic areas of focus for CAMP4, including urea cycle disorders and central nervous system (CNS) disorders25:47 Lessons from early clinical development and engaging regulators on novel targets27:47 Building high-resolution regulatory RNA maps beyond what public datasets can provide31:04 Considerations around the treatment window for SYNGAP132:40 The value of collaborative frameworks for rapid therapy development 35:20 Rethinking early safety assessment and global regulatory strategies for RNA therapies38:37 The importance of basic science, staying optimistic, and continuing to invest in biotech innovation40:18 Closing remarksFind out moreCAMP4 Therapeutics (https://www.camp4tx.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 194: Ontologies, diagnostics, and genomics for all with Melissa Haendel of UNC Chapel Hill
    Summary: This week on The Genetics Podcast, Patrick is joined by Melissa Haendel, Director of Translational Informatics and Precision Health and Professor at the University of North Carolina at Chapel Hill, and Phenotypic Lead at Alamya Health. They discuss the limitations of electronic health records for rare disease diagnostics, how patient self-reporting can enhance diagnosis, expanding access to genomic testing in underserved settings, and the challenges and promise of national-scale health data infrastructure. Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Melissa02:05 Melissa’s career path, beginning with finding her first professorship on Craigslist04:24 The fundamentals of ontology and how it can help identify common molecular mechanisms across different rare diseases06:29 Why key rare disease details are missing from electronic health records (EHRs) and how ontologies and AI can help11:33 How patient self-reporting using layperson phenotypic terms was associated with strong diagnostic performance15:27 Why recognizing multi-system patterns is key for diagnosing rare conditions and how tools like pattern-based screening are improving outcomes17:41 How Alamya Health is expanding access to genomic diagnostics by building local lab infrastructure in underserved communities22:03 How Alamya’s single-test, AI-powered approach helps solve complex cases in underserved settings24:18 Rethinking the true cost of delayed diagnosis, from wasted testing to the societal and family burden26:10 What it takes to do national-scale health data research in the U.S. and a vision of real-world data as a public utility33:37 Opening up access to national EHR data for research through health data networks36:15 The gap between real-world data and clinical research and why improving data quality benefits both care and science38:34 A major upcoming milestone in bringing unified rare disease codes into US healthcare with the Mondo ontology41:22 Closing remarks Find out moreTIS Lab (https://tislab.org/), Alamya Health (https://www.alamyahealth.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 193: Targeting autophagy to treat neurodegeneration with Frank Gentile of Casma Therapeutics
    Summary: This week on The Genetics Podcast, Patrick is joined by Frank Gentile, Chief Executive Officer of Casma Therapeutics. They discuss the role of autophagy in neurodegenerative diseases, Casma’s work on therapies for Gaucher’s disease and Parkinson’s disease, and the challenges and opportunities in rare disease biotech.Show Notes: 0:00 Intro to The Genetics Podcast00:58 Welcome to Frank 02:00 Origin story for Casma Therapeutics and its therapeutic focus on autophagy04:51 Diseases in which autophagy is dysregulated07:46 The link between GBA1 and Parkinson’s, and why so many neurodegenerative diseases exhibit autophagy defects12:28 Findings from Casma Therapeutics’ preclinical studies and associated mechanisms16:46 Milestones and design of Casma Therapeutics’ upcoming clinical studies20:24 Well-characterized cohorts of GDPD patients from natural history studies21:55 Identifying alternative therapeutic targets involved in autophagy initiation that are mTOR independent24:46 The negative effects of broad inhibition of mTOR25:57 Advantages and disadvantages of using small molecule therapy versus broader gene therapy26:59 Frank’s experience in investment and his approach to risk29:15 Frank’s perspective on the current biotech climate and how investors view rare disease32:16 Extending lead candidate and portfolio strategy to other therapeutic applications 34:15 Partnering opportunities and future potential of the TRPML1 program across neurodegenerative diseases35:50 A potential link between autophagy pathways and longevity37:20 Closing remarksFind out moreCasma Therapeutics (https://www.casmatx.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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Over The Genetics Podcast

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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