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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39:20
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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42:58
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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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43:51
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43:51
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
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38:34
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38:34
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
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
UK