EP 210: Live from ASHG: Breaking barriers in genomics with Heidi Rehm of the Broad Institute and Slavé Petrovski of AstraZeneca
Summary: 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 barriers to integrating genetic data into healthcare and drug development, and how open collaboration, global data sharing, and a focus on equity are driving more inclusive and impactful genomic discovery.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Heidi and Slavé02:01 Slavé’s role at AstraZeneca and work in genomics-driven R&D 03:24 Heidi’s work at the Broad Institute bridging clinical genomics, rare disease research, and global data-sharing initiatives04:12 Heidi on breaking a Guinness world record for rapid neonatal ICU (NICU) genomics and the shift to open data sharing06:32 Slavé on how large-scale, multimodal human data is transforming genomics research08:10 Heidi’s initiatives to integrate genomics into routine care at hospitals and with primary care physicians11:47 Integrating genomics into clinical trials and healthcare, and enabling global discovery through AstraZeneca’s open data portal15:34 Breaking down legal and logistical barriers to genomic data sharing and centering the patient voice18:40 AstraZeneca’s large-scale plasma proteome study and machine learning models predicting disease onset years before diagnosis21:44 Emerging omics tools advancing rare disease diagnosis24:19 The value and pitfalls of AI in genomics today28:54 Advancing health equity in genomics through data sharing, diverse recruitment, and global collaboration33:40 Progress and challenges in next-generation genetic therapies37:15 Reflections and advice for the next generation entering genomics and data-driven medicine40:44 Audience Q&A51:44 Closing remarksPlease 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 209: Reinventing Fabry disease treatment with Chris Hopkins of Glafabra Therapeutics
This 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 Podcast00:59 Welcome to Chris01:28 Overview of Fabry disease and reviving a promising shelved gene therapy03:12 Limitations of current Fabry disease treatments versus Glafabra Therapeutics’ approach05:19 How autologous cell therapy avoids an immune response06:43 Comparing this cell therapy approach to that of Casgevy for sickle cell disease11:28 Expanding Glafabra’s platform to other lysosomal storage disorders through enzyme cross-correction13:47 Comparing autologous cell therapy and AAV in Fabry17:02 Path to clinical development and funding strategy for Glafabra’s lead program19:33 Cost efficiency and trial design advantages of an orphan drug approach21:19 Considerations around comparator groups for Glafabra’s therapy24:11 Underdiagnosis and hidden prevalence of rare diseases 25:53 Other innovations Chris is excited about and expectations for the future of cell and gene therapy31:56 How Chris invented a technique to safely “milk” venomous cone snails37:00 Closing remarks and advice for scientists taking the leap from academia to entrepreneurshipFind out moreGlafabra Therapeutics (https://www.glafabra.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 208: Gene therapy at a crossroads: Successes, concerns, and the path forward
Summary: 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, and commercial viability in rare diseases. Show Notes: 0:00 Intro to The Genetics Podcast00:59 Episode overview02:50 Definition and scope of gene therapy 04:50 Gene therapy delivery via adeno-associated virus (AAV) and associated challenges and advantages06:40 AAV-based gene therapy and other advanced therapies in spinal muscular atrophy (SMA)10:29 Recent safety concerns around Sarepta Therapeutics’ AAV-based gene therapy for Duchenne muscular dystrophy (DMD)19:30 Commercial viability challenges for rare disease gene therapy24:26 Risk-benefit analysis of gene therapy for rare diseases 28:33 Considerations for optimizing AAV design and delivery routes31:26 Alternative approaches for delivery using viral and non-viral methods36:09 The future of AAV gene therapy41:42 Closing remarksFind out moreUpdate on Sarepta Therapeutics’ gene therapy for DMD (https://www.fiercepharma.com/pharma/sarepta-shares-more-elevidys-safety-data-response-patient-group-fda-petition)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 207: Decoding Parkinson’s genetics on a global scale with Andy Singleton and Sonya Dumanis of GP2 and ASAP
Summary: 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 for research.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Sonya and Andy01:50 Aims and overview of the Global Parkinson’s Genetics Program (GP2)03:15 The Aligning Science Across Parkinson’s (ASAP) initiative and how it led to the creation of GP204:37 Gaps in Parkinson’s genetics that inspired the creation of GP207:21 Closing the global representation gap in Parkinson’s genetics08:37 ASAP’s model for long-term resources and adaptive funding11:18 How GP2 overcame pandemic disruptions and data-sharing challenges to grow global capacity15:01 Using harmonized data to compare Parkinson’s with other neurological diseases17:02 Expanding GP2’s scope while keeping Parkinson’s at the core18:42 Using genetics to guide targeted Parkinson’s therapeutics 21:37 Early biomarkers beyond genetics including proteomics and alpha-synuclein seed amplification assay (SAA) to guide therapy timing23:01 Adapting GP2 to incorporate new discoveries and build capacity for functional and longitudinal studies26:54 Insights from GBA variants into gene expression and Parkinson’s risk biology28:24 How GP2’s open access data can be used to power clinical trials and advance drug development31:37 Lessons from GP2 on building sustainable global collaboration and capacity that can be applied across disease areas36:10 Navigating global differences in genetic testing access, regulation, and return of results across the GP2 network38:29 Building coalitions between philanthropy, nonprofits, and industry to sustain large-scale initiatives41:09 The story behind the GP2 tattoos and the team spirit that fuels the program42:23 Closing remarksFind out moreASAP (https://parkinsonsroadmap.org/#)GP2 (https://gp2.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 206: From caregiving to catalyzing FTD research with Wanda Smith of CureGRN
This 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 awareness worldwide.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Wanda02:18 Wanda’s journey into frontotemporal dementia (FTD) research from being a caregiver to establishing a brain bank06:31 Shifting focus after the discovery of progranulin (GRN) and accelerating FTD research through collaboration08:23 How GRN haploinsufficiency drives FTD and what it means for therapy11:57 Implication of progranulin in neurodegenerative diseases and therapies now in clinical trials13:33 Why earlier genetic testing and diagnosis are critical for families with GRN mutations15:31 Barriers behind the diagnostic odyssey and limited access to genetic testing17:03 Moving from symptom-based diagnosis to early diagnosis with biomarkers19:50 Expanding CureGRN’s reach through global collaboration21:14 Raising awareness to drive FTD research 22:44 Overcoming stigma and shame to encourage trial participation in FTD24:41 Navigating family conversations about FTD with compassion and meeting people where they are26:39 Providing multiple pathways for families to access support, education, and community28:35 Insights into the future of FTD and addressing the gaps preventing progress in care and diagnosis30:58 The importance of genetic testing and community resources in FTD33:23 The role of younger gene carriers in shaping early detection, prevention, and long-term care in FTD37:00 Closing remarksFind out moreCureGRN (https://www.curegrn.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
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