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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EP 192: From $88 to breakthroughs: Innovation in retinal gene therapy with Dr. Huma Qamar of Ocugen
Summary: This week on The Genetics Podcast, Patrick is joined by Huma Qamar, Chief Medical Officer at Ocugen. They discuss her journey from arriving in the US with $88 in her pocket to leading gene therapy programs, Ocugen’s breakthrough in retinal disease, and how gene-agnostic therapies could transform treatment for conditions like retinitis pigmentosa.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Huma 01:40 How Huma arrived in the US from Pakistan with $88 and went on to do medical training and research at Yale and Harvard06:47 Huma’s approach to challenges throughout her journey and how networking helped boost her career09:30 Ocugen’s mission to develop therapies for retinal disease and recent successes, including obtaining pediatric breakthrough designation12:10 Technical advantages and disadvantages of Ocugen’s retinal gene therapy 15:18 Insights from Huma’s experience across gene therapy trials versus oncology trials 19:17 Clinical landscape and genetic mutations in retinitis pigmentosa and the advantage of Ocugen’s gene-agnostic and gene modifier platform23:17 Therapy mechanism of reactivating degenerating photoreceptors via master regulators  26:32 Clinical trial design and regulatory considerations29:15 Huma’s vision and hopes for retinal diseases over the next 5-10 years 30:20 Huma’s experience as an interpreter and dedication to supporting immigrants and refugees32:12 Closing remarks and Huma’s message to women and patientsFind out moreOcugen (https://ocugen.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 191: Uncovering hidden histories and health insights from the Mexican Biobank with Andres Moreno-Estrada of LANGEBIO
This week on The Genetics Podcast, Patrick is joined by Andres Moreno-Estrada, population geneticist and head of the Human Evolutionary Genomics Lab at LANGEBIO in Mexico. They discuss the creation and insights of the Mexican Biobank, the genetic diversity of Latin America, ancient human migration, and the role of locally-led research in shaping public health and scientific equity.Show Notes: 0:00 Intro to The Genetics Podcast00:58 Welcome to Andres 01:56 Andres’ motivation to pursue genetics03:01 How and why Andres established the Mexican biobank with genotyping of more than 6,000 people07:25 Surprising findings on ancestry and regional similarities from the Mexican biobank09:26 Links between Indigenous ancestry, BMI, and disease-related traits12:36 Reconstructing population history from the Mexican biobank20:16 Tracing a single ancient contact between South America and Polynesia through shared Indigenous DNA21:58 Collaborative genomics efforts across Latin America and the launch of a regional Human Cell Atlas 26:39 How biobanks can inform national health decisions and why prioritization is the missing link in Mexico32:10 Public health applications of genetic data and the need for local and regional biobanks35:17 How ancient DNA reveals early cultural mixing and the deep roots of Mexico’s Day of the Dead traditions39:12 Closing remarks and a call for support and investment in locally-led science across Latin America and beyondFind out moreMoreno Lab (http://www.morenolab.org/)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 190: Targeting regeneration to tackle Duchenne Muscular Dystrophy with Frank Gleeson of Satellos
Summary: This week on The Genetics Podcast, Patrick is joined by Frank Gleeson, co-founder and CEO of Satellos. They discuss Satellos’ novel approach to treating Duchenne Muscular Dystrophy by targeting muscle stem cell regeneration, how this fills a critical therapeutic gap, and the promising results of their early clinical trials. They also touch on what it takes to advance drug development and secure funding in today’s biotech landscape.Show Notes: 0:00 Intro to The Genetics Podcast01:00 Welcome to Frank and the origin story for Satellos and its focus on muscle stem cell regeneration to treat Duchenne Muscular Dystrophy (DMD)14:03 Counteracting degeneration in DMD and associated mechanisms16:08 Current therapeutic focuses in DMD, including gene therapy and exon skipping to increase expression of dystrophin24:28 Satellos’ drug development strategy, safety-first design, and early clinical findings in adults with DMD35:54 The study design and number of patients for Satellos’ phase 2 trial40:12 Frank’s recommendations for how biotechs can raise funding in today’s climate 44:38 Advantages of Frank’s career path across business and venture capital to biotech46:52 Closing remarks  Find out moreSatellos (https://satellos.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
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
Australia