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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Sano Genetics Podcasts
This is a podcast series called Demystifying Genetics where I, Dr Matt Burgess, Genetic Counsellor interview other genetic counsellors, people working in genetics or people affected by genetic conditions. We chat about human clinical genetics, genetic counselling, ethics, pyschosocial issues and more. To contact me, please reach out at matt at insightgenomica dot au.
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PGT Unpacked: Ethics, Linkage and Hard Choices in Reproductive Genetics. Demystifying Genetics with Erica Pai
54:04
54:04
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54:04In this episode host Matt Burgess speaks with Canadian genetic counsellor Erica Pai about pre‑implantation genetic testing (PGT). They discuss how PGT has evolved, technical and ethical challenges (including difficult genes like CYP21A2), the continuing role of linkage analysis in embryo testing, and the complexities of mosaic and segmental results…
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EP 213: Inside the science of hearing loss and gene therapy for deafness with Ellen Reisinger of the University of Tübingen
35:29
35:29
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35:29This 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 Gene…
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When Genes Meet Justice: Kidney Risk, Gene Therapy, and Community Care. Demystifying Genetics with Barbara Harrison
57:26
57:26
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57:26Host Matt Burgess speaks with Assistant Professor Barbara Harrison of Howard University about APOL1-related kidney disease, sickle cell disease, and the role of cultural awareness in genetic counselling. They discuss health inequities, community trust around new therapies like gene editing, and efforts to increase diversity in the profession throug…
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EP 212: A hub-and-spoke model for accelerating rare disease drug development with Ananth Sridhar and Sun-Gou Ji of BridgeBio
46:05
46:05
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46:05Summary: This week on The Genetics Podcast, Patrick is joined by BridgeBio’s Ananth Sridhar, Chief Operating Officer of Cardiorenal Programs, and Sun-Gou Ji, Vice President of Computational Genomics. They discuss the hub-and-spoke model for de-risking and accelerating rare disease drug development, the role of human genetics in target discovery, le…
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When Genes Guide Care: BRCA, Rapid Testing and Real Choices. Demystifying Genetics with Mary-Anne Young (Favourite Genes BRCA1&2).
45:55
45:55
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45:55Dr Matt Burgess talks with Mary-Anne Young about the real-world impact of genomics on healthcare and genetic counselling. They cover BRCA1/2 history, rapid testing, integration with oncology, and using polygenic risk to personalise care. The episode explores family systems and counselling techniques, ethical issues around returning research finding…
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EP 211: Building hope for inherited blindness and deafness with Justin Porcano of Save Sight Now
30:24
30:24
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30:24Summary: This week on The Genetics Podcast, Patrick is joined by Justin Porcano, co-founder and Executive Director of Save Sight Now. They discuss how his daughter’s diagnosis with Usher syndrome type 1B (USH1B) inspired the founding of Save Sight Now, the organization’s efforts to accelerate research and overcome barriers in gene therapy, and the …
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When Genes Meet Heart: Inside Cardiac Genomics. Demystifying Genetics with Jodie Ingles (Favourite Gene: MYH7)
45:12
45:12
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45:12Host Matt Burgess talks with Dr Jodie Ingles, a leading cardiac genetic counsellor and researcher, about inherited heart conditions, supporting families after sudden cardiac events, and translating genomic discoveries into clinical care. The episode covers variant classification, health equity, the evolving role of genetic counsellors, and the impo…
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EP 210: Live from ASHG: Breaking barriers in genomics with Heidi Rehm of the Broad Institute and Slavé Petrovski of AstraZeneca
52:54
52:54
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52:54Summary: This week on The Genetics Podcast, recorded live at ASHG 2025, Patrick is joined by Heidi Rehm, Chief Genomics Officer at MGH’s Center for Genomic Medicine and Co-director at the Broad Institute, and Slavé Petrovski, Vice President of AstraZeneca's Centre for Genomics Research. They discuss the rapid progress of large-scale genomics, the b…
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Huntington’s Unlocked: Ethics, Exclusion Testing & New Gene Therapies. Demystifying Genetics with Sandra Peacock (Favourite Gene: HTT).
44:10
44:10
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44:10Genetic counsellors Matt and Sandra explore Huntington disease, prenatal and lab-based testing ethics, and how lab genetic counsellors act as gatekeepers. They discuss exclusion testing, the challenges of writing clear lab reports, and recent advances in gene therapy. The episode also covers the growing role of AI and automation in genetic labs, th…
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EP 209: Reinventing Fabry disease treatment with Chris Hopkins of Glafabra Therapeutics
39:20
39:20
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39:20This week on The Genetics Podcast, Patrick is joined by Chris Hopkins, CEO of Glafabra Therapeutics. They discuss how Glafabra is advancing a next-generation cell therapy for Fabry disease, the differences between gene therapy modalities, and the future of cell and gene therapy innovation. Show Notes: 0:00 Intro to The Genetics Podcast 00:59 Welcom…
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From Mistake to Mastery: A Genetic Counsellor’s Story. Demystifying Genetics with Rachel Vanneste (Favourite gene SHH)
48:03
48:03
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48:03Host Matt Burgess talks with Canadian genetic counsellor Rachel Vanneste about lessons learned from early-career mistakes, the unexpected charm of the sonic hedgehog gene (SHH), and how sales and business skills are shaping modern genetic counselling. They discuss counselling in a second language, career pivots across clinic, industry and labs, the…
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EP 208: Gene therapy at a crossroads: Successes, concerns, and the path forward
42:58
42:58
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42:58Summary: This week on The Genetics Podcast, Patrick Short takes a solo deep dive into the current state of gene therapy ahead of next week’s live recording at ASHG. He explores the promise and limitations of adeno-associated virus (AAV) delivery, examples of gene therapies for neuromuscular diseases, and the challenges of balancing safety, cost, an…
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Telehealth, Mainstreaming & the Modern Counsellor. Demystifying Genetics with Dawn Allain. (Favourite gene - GNAS)
48:07
48:07
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48:07By Matt Burgess
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EP 207: Decoding Parkinson’s genetics on a global scale with Andy Singleton and Sonya Dumanis of GP2 and ASAP
43:51
43:51
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43:51Summary: This week on The Genetics Podcast, Patrick is joined by Andy Singleton, Program Lead of the Global Parkinson’s Genetics Program (GP2), and Sonya Dumanis, COO of the Coalition for Aligning Science. They discuss the creation of GP2, how the initiative is closing representation gaps in genetics, and building global infrastructure and capacity…
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Reinventing Clinical Trials: How Sano Genetics Puts Patients First
49:47
49:47
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49:47Host Matt speaks with Dr. Patrick Short, scientist and CEO of Sano Genetics, about building a patient-centered genomics company, the challenges of designing and recruiting for clinical trials, and the evolving role of diagnostics in precision medicine. They discuss Short’s research into non-coding DNA, the practical and ethical questions around pre…
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EP 206: From caregiving to catalyzing FTD research with Wanda Smith of CureGRN
38:34
38:34
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38:34This week on The Genetics Podcast, Patrick is joined by Wanda Smith, founder of CureGRN. They discuss Wanda’s journey from caring for her mother to driving FTD research, the discovery of progranulin and development of new therapies, the diagnostic odyssey and need for earlier genetic testing, and how the CureGRN community is expanding support and a…
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Hidden Codes: Hereditary Melanoma, CDKN2A and the Families Behind the Genes
44:38
44:38
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44:38Dr. Aideen McInerney-Leo explores hereditary melanoma (CDKN2A), diagnostic disclosure in Turner syndrome, mainstreaming genomics, gene therapy, and the expanding role of genetic counsellors in research and patient care. Through clinical stories, family perspectives and practical takeaways on testing and screening, this episode highlights how resear…
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EP 205: From father to biotech founder: Building hope for children with ultra-rare diseases with Terry Pirovolakis of Elpida Therapeutics
43:46
43:46
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43:46This 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 via…
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Who Is a Genetic Counsellor? Redefining Identity in Genomics
57:12
57:12
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57:12Host Matt chats with American genetic counsellor Dr Lisa Schwartz about the evolving professional identity of genetic counsellors, the role of networking and qualitative research (including authors' positionality), and how clinical training translates into lab, policy and education roles. They also swap stories about travel, outdoor winery concerts…
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EP 204: Bringing cardiovascular genetics and biobank discoveries into the clinic with Samuli Ripatti of the University of Helsinki
36:52
36:52
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36:52This 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 t…
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Jewish Ancestry & Genetics: Carrier Screening, Community and Choice
39:44
39:44
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39:44Host Matt Burgess interviews Gidon Schwartz from Jnetics, a UK charity offering pre-conception carrier screening and partnering with the NHS to increase access to BRCA and carrier testing for people with Jewish ancestry. They discuss why ancestry matters for certain recessive conditions, how testing and outreach have evolved, ethical and identity c…
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EP 203: Building the tools behind modern genomics with Jonathan Marchini of Regeneron
38:20
38:20
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38:20This 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 e…
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From Clinic to TikTok: Dena DNA’s Journey Demystifying Genetics
58:43
58:43
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58:43Host Matt Burgess interviews genetic counsellor and content creator Dena Goldberg (Dena DNA) about her path from clinical genetics to social media, her work educating the public on Lynch syndrome and cancer genetics, and how storytelling makes complex science accessible. The episode also covers Dena’s personal experiences with infertility and an un…
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EP 202: Biotech at the intersection of science and politics with Max Bronstein of Aviva Strategies
45:46
45:46
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45:46This 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 Note…
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Living with CMT: Finding Answers in the SORD Gene
28:21
28:21
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28:21In this episode Matt Burgess interviews Darryl Beitsch about his lifelong experience with Charcot‑Marie‑Tooth (CMT) and the late discovery that his neuropathy is caused by mutations in the SORD gene. They discuss diagnosis, nerve testing, genetic testing advances, family implications, volunteering with CMT Australia, and the importance of research,…
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EP 201: The gene therapy playbook: Successes, setbacks, and the path forward with Richard Wilson of Astellas
47:28
47:28
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47:28This 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…
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‘Powerhouse’ Lives: A Genetic Counselor’s Journey Through Mitochondrial Disease (GUK1)
1:03:44
1:03:44
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1:03:44Genetic counsellor Matt talks with Devin Shuman, a fellow genetic counsellor and rare-disease patient, about her family’s diagnosis of mitochondrial DNA depletion syndrome, the long diagnostic odyssey from muscle biopsy to a candidate gene discovery, and the realities of genetic testing. Devin discusses the process of a disease causing variant in G…
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EP 200: From predictions to breakthroughs in genetics and biotech
34:40
34:40
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34:40This week on The Genetics Podcast, we celebrate our 200th episode with a look back at some of the earliest episodes, particularly ones that foresaw major trends or went on to spark real-world impact. These include Eric Topol’s early predictions about AI in healthcare, Laurence Reid’s vision for gene therapy in hearing loss, Sir Rory Collins on the …
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Unraveling Charcot-Marie-Tooth (CMT): A Journey Through Generations. Demystifying Genetics and CMT1A with Peter Critchley
25:57
25:57
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25:57Welcome to another enlightening episode of Demystifying Genetics, hosted by Matt Burgess. In this episode, we dive deep into the world of Charcot-Marie-Tooth disease (CMT) with Dr. Peter Critchley, who himself is affected by this genetic condition. The conversation uncovers the nuances of CMT, focusing on CMT1A - the specific gene in Peter's family…
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EP 199: Functional genomics at scale: Using in vivo perturbations to study genetic risk variants in the brain with Xin Jin of Scripps Research Institute
36:31
36:31
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36:31This week on The Genetics Podcast, Patrick is joined by Xin Jin, Associate Professor in the Department of Neuroscience at The Scripps Research Institute. They discuss how in vivo Perturb-seq enables scalable and high-resolution modeling of neurogenetic disorders like autism, how introducing mutations directly into living mouse brains reveals cell-t…
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EP 198: Reimagining clotting disorders: Patient voices and “unreasonable” leadership with Benny Sorenson of Hemab Therapeutics
43:52
43:52
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43:52This week on The Genetics Podcast, Patrick is joined by Benny Sorensen, CEO of Hemab Therapeutics. They discuss how Hemab is reimagining clotting therapies by centering patient voices, how persistence and being “unreasonable” led to their first program, and the value of their multi-modality and collaborative approach. Show Notes: 0:00 Intro to The …
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EP 197: From biobanks to breakthroughs: Linking genomics to drug discovery with Heiko Runz of insitro
39:41
39:41
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39:41Summary: 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 m…
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EP 196: A new vision for sequencing: In-sample multiomics and precision medicine with Molly He
47:02
47:02
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47:02This 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 Geneti…
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Genetic Ventures: From Counseling to Entrepreneurship. Demystifying genetics with Erica Ramos (Favourite gene - HFE Hereditary Hemochromatosis)
52:42
52:42
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52:42Join host Matt as he engages in a captivating conversation with his guest, American genetic counselor Erica Ramos. In this episode of Demystifying Genetics, Erica shares insights into her favorite gene, the HFE gene, associated with hereditary hemochromatosis. Their discussion delves into the evolution of understanding this condition and the import…
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EP 195: From junk to therapy: The untapped power of regulatory RNAs with David Bumcrot of CAMP4 Therapeutics
41:32
41:32
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41:32Summary: 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 complexit…
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EP 194: Ontologies, diagnostics, and genomics for all with Melissa Haendel of UNC Chapel Hill
42:51
42:51
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42:51Summary: 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-…
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EP 193: Targeting autophagy to treat neurodegeneration with Frank Gentile of Casma Therapeutics
38:42
38:42
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38:42Summary: 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…
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EP 192: From $88 to breakthroughs: Innovation in retinal gene therapy with Dr. Huma Qamar of Ocugen
34:59
34:59
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34:59Summary: 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 pigm…
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EP 191: Uncovering hidden histories and health insights from the Mexican Biobank with Andres Moreno-Estrada of LANGEBIO
41:52
41:52
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41:52This 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 pu…
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EP 190: Targeting regeneration to tackle Duchenne Muscular Dystrophy with Frank Gleeson of Satellos
48:50
48:50
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48:50Summary: 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…
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From Rural Roots to Genetic Advocate. Demystifying Genetics with Kate Wilson.
53:04
53:04
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53:04In the season finale of Demystifying Genetics, host Matt is joined by fellow genetic counselor and podcaster, Kate Wilson, the voice behind All Access DNA. They delve into the evolving landscape of genetic counseling, exploring Kate's personal journey from rural beginnings to becoming a passionate advocate for equitable access to clinical genetics.…
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EP 189: From genetic heritability in twins to gut health with Tim Spector of King’s College London and Zoe
47:56
47:56
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47:56Summary: This week on The Genetics Podcast, Patrick is joined by Tim Spector, Professor of Genetic Epidemiology at King’s College London and co-founder of Zoe. They discuss surprising insights on heritability from decades of twin research, the profound impact of the microbiome on health and disease, and the effect of diet on the gut microbiome. Sho…
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Inside Genetic Counselling: Navigating Direct-to-Consumer Testing and Research. Demystifying Genetics with Joshua Nolan
53:48
53:48
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53:48In this episode of "Demystifying Genetics," host Matt Burgess speaks with English research genetic counsellor Joshua Nolan. They explore topics such as the underrepresentation of males in genetic counselling, the intricacies of direct-to-consumer genetic testing, and the symbiosis between clinical and research work in genetics. Joshua shares his in…
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EP 188: Cracking the code of autism through genetics with Daniel Geschwind of UCLA
59:54
59:54
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59:54Summary: This week on The Genetics Podcast, Patrick is joined by Daniel Geschwind, Professor, Senior Associate Dean, and Associate Vice Chancellor of Precision Health at UCLA. They discuss the circuitous career path that led Daniel to building a biobank that provided the foundation for autism genetics, the complexity of the molecular and genetic as…
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Pioneering Genetics in Ghana: A Groundbreaking Journey. Demystifying Genetics with Ahmed-Sherrif Kanvela Yussif
41:26
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41:26This episode of the "Demystifying Genetics" podcast features an insightful conversation with Ahmed-Sherrif Kanvela Yussif, one of the first genetic counsellors in Ghana. Host Matt Burgess delves into Ahmed's pioneering journey, exploring the role of genetic counseling in Ghana's healthcare system and its impact on public health, particularly regard…
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EP 187: Rethinking germline gene editing and revolutionizing women’s fertility with Helen O’Neill
38:38
38:38
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38:38Summary: This week on The Genetics Podcast, Patrick is joined by Helen O’Neill, molecular geneticist, founder of Hertility Health, and associate professor at University College London (UCL). They discuss how Helen’s experience as an identical twin sparked her interest in genetics, her firsthand account of the CRISPR baby controversy, and why stubbo…
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Genetic Counseling Unwrapped: A Deep Dive. Demystifying Genetics with Jaime Jessen-Brown
52:46
52:46
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52:46Join host Matt, a seasoned genetic counselor, as he delves into the evolving world of clinical genetics in the latest episode of Demystifying Genetics. With guest Jaime Jessen-Brown, a genetic counselor based in Toronto, Canada, this podcast episode explores their shared journey from studying in Newcastle, Australia, to Jaime's diverse career path.…
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EP 186: Unpacking the science and myths around obesity and health with geneticist and author Giles Yeo
50:15
50:15
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50:15This week on The Genetics Podcast, Patrick is joined by Giles Yeo, geneticist and author of Gene Eating: The Science of Obesity and the Truth About Dieting and Why Calories Don't Count: How We Got the Science of Weight Loss Wrong. Giles and Patrick discuss the genetic, neural, and evolutionary drivers of obesity, the advancements in safe and effect…
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Unraveling Polygenic Risk Scores (PRS) in Genetics. Demystifying Genetics with Kylie Morgan
45:32
45:32
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45:32Join Matt Burgess in this episode of Demystifying Genetics as he sits down with Dr. Kylie Morgan, a genetic counsellor from Melbourne, to explore the emerging field of polygenic risk scores. Discover how this new form of genetic testing is shaping clinical practices in both Australia and the United States. Learn about the personal experiences of ge…
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EP 185: From newborn screening to lifelong data in an evolving genomics landscape with Madhuri Hegde of Revvity
40:44
40:44
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40:44This week on The Genetics Podcast, Patrick is joined by Madhuri Hegde, SVP and Chief Scientific Officer of Revvity. They discuss Revvity’s advances in ultra-rapid clinical-grade sequencing, opportunities, challenges, and global inequities in newborn screening, and the dilemma of resequencing versus long-term data storage. Show Notes: 0:00 Intro to …
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