The Genetics Podcast

Sano Genetics
  • 0,0 (0)
  • TERMÉSZETTUDOMÁNYOK
  • KÉTHETENTE FRISSÜL

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

  1. 3 NAPJA

    EP 212: A hub-and-spoke model for accelerating rare disease drug development with Ananth Sridhar and Sun-Gou Ji of BridgeBio

    Summary:  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, lessons from their autosomal dominant hypocalcemia type 1 (ADH1) program, and how portfolio design and predictive genomics are shaping the future of precision medicine. Show Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to Ananth & Sun-Gou 01:57 How BridgeBio’s hub-and-spoke model de-risks and accelerates rare disease drug development 06:45 How programs move from the hub to the spokes in target discovery and development 09:10 Translating a target into a therapy for autosomal dominant hypocalcemia type 1 (ADH1) 12:28 Challenges in ADH1 drug development and using population genetics to identify patients with gain-of-function variants 18:08 Under-diagnosis and incomplete penetrance in rare disease and quantifying genetic versus phenotypic prevalence 20:52 Balancing first-in-class innovation with risk management in rare disease drug development 24:24 Evaluating rare disease programs using risk-adjusted net present value (NPV) instead of peak sales 27:20 Key factors that can make rare disease programs faster and cheaper to develop, and why modality agnosticism is important 32:00 Sun-Gou’s experience in computational genetics and building data-driven infrastructure for discovery 36:44 Ananth’s lessons from Regeneron and applying patient-centered principles to rare disease drug development 39:00 Sun-Gou on the power of newborn sequencing and personal lessons from early diagnosis 43:36 Ananth’s views on making predictive medicine more personal and human-centered 44:51 Closing remarks Find out more BridgeBio (https://bridgebio.com/unlocking-rare-diseases-medicine) Hub-and-spoke model (https://www.youtube.com/watch?v=gRURL49QsX4) ADH1 publication (https://www.cell.com/ajhg/fulltext/S0002-9297(25)00244-7) 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

    46 perc

  2. OKT. 30.

    EP 211: Building hope for inherited blindness and deafness with Justin Porcano of Save Sight Now

    Summary:  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 innovative gene delivery methods and therapeutic approaches currently in development. Show Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to Justin 01:39 How Justin’s daughter’s Usher syndrome diagnosis (USH1B) led to the founding of Safe Sight Now and a mission to accelerate research 05:23 Biggest hurdles to therapeutic development for USH1B 08:36 Progress in the research with new animal models and advances in clinical endpoint development 10:25 How Justin applied design thinking and AI to rapidly learn rare disease science 12:38 Advances in gene delivery approaches for USH1B 15:45 Therapeutic intervention windows in USH1B with early treatment for hearing loss and later options for addressing vestibular and visual impairments 18:32 Save Sight Now’s plans for the next phase of clinical translation and sustainable growth 20:50 Why Justin decided to establish Save Sight Now as an independent nonprofit 22:27 The need for stronger collaboration between patient organizations and biotech companies 25:50 Building global collaborations to expand Save Sight Now’s reach 28:00 How the community can support Save Sight Now’s mission and upcoming fundraising gala 28:59 Closing remarks Find out more Save Sight Now (https://www.savesightnow.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

    30 perc

  3. OKT. 23.

    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 Podcast 00:59 Welcome to Heidi and Slavé 02:01 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 initiatives 04:12 Heidi on breaking a Guinness world record for rapid neonatal ICU (NICU) genomics and the shift to open data sharing 06:32 Slavé on how large-scale, multimodal human data is transforming genomics research 08:10 Heidi’s initiatives to integrate genomics into routine care at hospitals and with primary care physicians 11:47 Integrating genomics into clinical trials and healthcare, and enabling global discovery through AstraZeneca’s open data portal 15:34 Breaking down legal and logistical barriers to genomic data sharing and centering the patient voice 18:40 AstraZeneca’s large-scale plasma proteome study and machine learning models predicting disease onset years before diagnosis 21:44 Emerging omics tools advancing rare disease diagnosis 24:19 The value and pitfalls of AI in genomics today 28:54 Advancing health equity in genomics through data sharing, diverse recruitment, and global collaboration 33:40 Progress and challenges in next-generation genetic therapies 37:15 Reflections and advice for the next generation entering genomics and data-driven medicine 40:44 Audience Q&A 51:44 Closing remarks 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

    53 perc

  4. OKT. 16.

    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 Podcast 00:59 Welcome to Chris 01:28 Overview of Fabry disease and reviving a promising shelved gene therapy 03:12 Limitations of current Fabry disease treatments versus Glafabra Therapeutics’ approach 05:19 How autologous cell therapy avoids an immune response 06:43 Comparing this cell therapy approach to that of Casgevy for sickle cell disease 11:28 Expanding Glafabra’s platform to other lysosomal storage disorders through enzyme cross-correction 13:47 Comparing autologous cell therapy and AAV in Fabry 17:02 Path to clinical development and funding strategy for Glafabra’s lead program 19:33 Cost efficiency and trial design advantages of an orphan drug approach 21:19 Considerations around comparator groups for Glafabra’s therapy 24:11 Underdiagnosis and hidden prevalence of rare diseases   25:53 Other innovations Chris is excited about and expectations for the future of cell and gene therapy 31:56 How Chris invented a technique to safely “milk” venomous cone snails 37:00 Closing remarks and advice for scientists taking the leap from academia to entrepreneurship Find out more Glafabra 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

    39 perc

  5. OKT. 9.

    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 Podcast 00:59 Episode overview 02:50 Definition and scope of gene therapy  04:50 Gene therapy delivery via adeno-associated virus (AAV) and associated challenges and advantages 06:40 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 therapy 24:26 Risk-benefit analysis of gene therapy for rare diseases  28:33 Considerations for optimizing AAV design and delivery routes 31:26 Alternative approaches for delivery using viral and non-viral methods 36:09 The future of AAV gene therapy 41:42 Closing remarks Find out more Update 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

    43 perc

  6. OKT. 2.

    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 Podcast 00:59 Welcome to Sonya and Andy 01:50 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 GP2 04:37 Gaps in Parkinson’s genetics that inspired the creation of GP2 07:21 Closing the global representation gap in Parkinson’s genetics 08:37 ASAP’s model for long-term resources and adaptive funding 11:18 How GP2 overcame pandemic disruptions and data-sharing challenges to grow global capacity 15:01 Using harmonized data to compare Parkinson’s with other neurological diseases 17:02 Expanding GP2’s scope while keeping Parkinson’s at the core 18:42 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 timing 23:01 Adapting GP2 to incorporate new discoveries and build capacity for functional and longitudinal studies 26:54 Insights from GBA variants into gene expression and Parkinson’s risk biology 28:24 How GP2’s open access data can be used to power clinical trials and advance drug development 31:37 Lessons from GP2 on building sustainable global collaboration and capacity that can be applied across disease areas 36:10 Navigating global differences in genetic testing access, regulation, and return of results across the GP2 network 38:29 Building coalitions between philanthropy, nonprofits, and industry to sustain large-scale initiatives 41:09 The story behind the GP2 tattoos and the team spirit that fuels the program 42:23 Closing remarks Find out more ASAP (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

    44 perc

  7. SZEPT. 25.

    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 Podcast 00:59 Welcome to Wanda 02:18 Wanda’s journey into frontotemporal dementia (FTD) research from being a caregiver to establishing a brain bank 06:31 Shifting focus after the discovery of progranulin (GRN) and accelerating FTD research through collaboration 08:23 How GRN haploinsufficiency drives FTD and what it means for therapy 11:57 Implication of progranulin in neurodegenerative diseases and therapies now in clinical trials 13:33 Why earlier genetic testing and diagnosis are critical for families with GRN mutations 15:31 Barriers behind the diagnostic odyssey and limited access to genetic testing 17:03 Moving from symptom-based diagnosis to early diagnosis with biomarkers 19:50 Expanding CureGRN’s reach through global collaboration 21:14 Raising awareness to drive FTD research  22:44 Overcoming stigma and shame to encourage trial participation in FTD 24:41 Navigating family conversations about FTD with compassion and meeting people where they are 26:39 Providing multiple pathways for families to access support, education, and community 28:35 Insights into the future of FTD and addressing the gaps preventing progress in care and diagnosis 30:58 The importance of genetic testing and community resources in FTD 33:23 The role of younger gene carriers in shaping early detection, prevention, and long-term care in FTD 37:00 Closing remarks Find out more CureGRN (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

    39 perc

  8. SZEPT. 18.

    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 Podcast 00:58 Welcome to Terry 01:24 The beginning of Terry’s gene therapy journey after his son Michael was diagnosed with SPG50 03:24 Learning the biotech industry and building a gene therapy team 05:17 Terry’s experience with learning about gene therapy without a scientific background 06:42 The process of building a gene therapy in under three years during the COVID-19 pandemic 09:30 Fundraising through community support and major donors 11:06 Expanding access of Michael’s gene therapy to children all over the world 12:32 The creation of Elpida Therapeutics to develop non-commercially viable therapies and adapting to a challenging funding landscape 15:24 Insight into cost, accessibility, and the role of endpoints and manufacturing 20:06 Learning from safety events as gene therapy scales and the importance of considering the risk/reward ratio in rare disease 23:24 Landscape of precision therapeutics available today beyond AAV vectors 27:09 Designing trials at Elpida to demonstrate efficacy in ultra-rare disease 29:24 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 funding 37:48 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 remarks Find out more Elpida 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

    44 perc
Összes (212)

Névjegy

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

Információ

  • Létrehozó
    Sano Genetics
  • Aktív évek
    2019. - 2025.
  • Epizódok
    212
  • Besorolás
    Tiszta
  • Szerzői jog
    © Sano Genetics
  • Műsor webhelye
    The Genetics Podcast

Ezeket is kedvelheti