The Genetics Podcast

Sano Genetics
The Genetics Podcast

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. 6 DAYS AGO

    EP 185: From newborn screening to lifelong data in an evolving genomics landscape with Madhuri Hegde of Revvity

    This 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 The Genetics Podcast 00:59 Welcome to Madhuri 01:52 Rebranding Revvity as a healthcare company 02:51 Advancements in sequencing and Revvity’s projects, including newborn screening tests and clinical ultra-rapid sequencing 12:29 Opportunities and challenges for newborn sequencing and global inequity in access 17:46 Price of sequencing and data storage versus resequencing considerations 21:10 Complexities and nuances of genomic data interpretation 23:28 Rethinking data portability and storage across the lifespan 26:00 Understanding penetrance and population genetics through lifelong sequencing 27:36 Scaling genetic counseling to match advancements and the potential value of chatbots 32:45 The promise of proteomics and translating Olink data to the clinic   34:31 Implementing polygenic risk scores in clinical management   37:12 Transitioning from academia to industry and insights into product development 38:37 Closing remarks Find out more Revvity (https://www.revvity.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

    41 min
  2. 24 APR

    EP 184: Rethinking speed and scale in clinical genomics with Euan Ashley of Stanford University

    This week on The Genetics Podcast, Patrick is joined by Dr. Euan Ashley, Chair of the Department of Medicine at Stanford, founder of various biotech companies, and author of The Genome Odyssey: Medical Mysteries and the Incredible Quest to Solve Them. They discuss Euan’s groundbreaking work on ultra-rapid genome sequencing and how widespread sequencing, wearables, and AI could shape the future of preventive medicine and human performance. Show Notes:  00:00 Intro to The Genetics Podcast 01:00 Welcome to Euan 01:50 A pivotal case in Euan’s career involving diagnosing a newborn experiencing cardiac arrest 06:41 How Euan’s team worked towards a record of eight hours from clinical sample to diagnosis 10:05 Hurdles that need to be overcome before ultra-rapid sequencing workflows can be widely used in clinical settings 11:40 Considerations around widespread genetic screening in newborns 16:10 Weighing utility and uncertainty in genetic testing for disease 19:17 Steps to a future where widespread genetic testing is economically viable  23:54 New frontiers of clinical genomics, including integration with electronic health records (EHRs) and wearables    28:24 The physiology and genetics of athletic performance and the inspiration behind the ELITE study 33:54 Psychological drivers and effects of human performance 37:57 Euan’s interest in generative AI for developing novel therapies 41:32 Closing remarks  Find out more The Ashley Lab (https://ashleylab.stanford.edu/) 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 min
  3. 17 APR

    EP 183: Rewriting the Rules for Ultra-Rare Diseases with Kent Rogers of EveryONE Medicines

    This week on The Genetics Podcast, Patrick is joined by Kent Rogers, Chief Executive Officer at EveryONE Medicines. They discuss Kent’s journey across every side of the desk in the drug discovery space, EveryONE Medicines’ efforts to develop antisense oligonucleotides for ultra-rare diseases, and the need to adapt regulatory models for n-of-1 therapies. Show Notes:  00:00 Intro to The Genetics Podcast 00:59 Welcome to Kent and his experiences across every side of the pharma ‘desk’ 06:00 Challenges of commercialization for ultra-rare disease therapies and the advantage of antisense oligonucleotides (ASOs)  10:28 EveryONE Medicines’ approach to regulatory bodies 12:30 Regulatory feedback and expectations from EveryONE Medicines’ platform-based approach to n-of-1 therapies 15:47 Differences in regulatory requirements for rare disease across countries  19:53 Insights from being on different sides of the drug development industry 22:40 Differences in healthcare systems across countries that can facilitate or impede drug development 26:57 Rationale behind focusing on ASOs for treating rare diseases   28:03 Building EveryONE Medicines and Kent’s approach to leadership 33:20 Lessons from Kent’s career 37:17 Closing remarks  Find out more EveryONE Medicines (https://www.eomeds.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

    40 min
  4. 10 APR

    EP 182: Demystifying genetic counseling with Matt Burgess

    This week on The Genetics Podcast, Patrick is joined by Matt Burgess, genetic counselor, host of the Demystifying Genetics podcast, and Adjunct Professor at Bay Path University. They discuss the evolution of genetic counseling, ethical challenges in gene therapy, and Matt’s experiences with his podcast. Show Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to Matt 02:09 Matt’s run-ins with Olivia Newton John while working at Austin Hospital in Melbourne 04:34 Matt’s background and path to genetic counseling  06:58 The evolution of the field of genetic counseling over time and the role of counselors 12:47 Matt’s work on rare disease AP-4 hereditary spastic paraplegia (AP-4-HSP) and the ethical considerations of gene therapy 20:22 Balancing the needs and expectations of individuals and families in counseling  23:06 Rebranding negative connotations of the word “counseling”    26:58 Memorable episodes from Matt’s podcast Demystifying Genetics 34:31 Differences in genetic counseling and healthcare in the US versus Australia and the UK 40:00 Matt’s current work on writing a novel, starting a company called Rosalind Genetics, and being involved in genetic education 42:47 The potential and drawbacks of AI models in the context of genetic counseling and information 46:46 Closing remarks Find out more Demystifying Genetics (https://demystifying-genetics.buzzsprout.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

    48 min
  5. 3 APR

    EP 181: Transforming frustration into breakthroughs in gene therapy with Salvador Rico of Encoded Therapeutics

    This week on The Genetics Podcast, Patrick is joined by Salvador Rico, Chief Medical Officer at Encoded Therapeutics. They discuss Salvador’s journey into drug development, his work on gene therapy for X-linked myotubular myopathy, and fundamental challenges and exciting advances in the genetics field. Show Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to Salvador and how he became involved in drug development 11:01 Frustrations and rewards of the genetics field 13:59 Salvador’s study on gene therapy for patients with X-linked myotubular myopathy (XLMTM) 19:46 Risk of liver issues in gene therapy trials and attempts to mitigate them 24:22 Encoded Therapeutics‘ approach to drug discovery and what motivated Salvador to join the team 27:22 Steps towards therapeutic targeting of gene regulatory elements  30:04 Advantages of different methods for drug delivery  32:31 DNA- versus RNA-based therapy   34:56 Insights from approaches in other fields, including psychiatry 36:35 Considerations for using natural history studies 40:32 Expectations and goals for Encoded Therapeutics’ current and upcoming studies 43:17 Closing remarks Find out more Encoded Therapeutics (https://encoded.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

    46 min
  6. 27 MAR

    EP 180: From a consulting project to a biotech start-up with Leeland Ekstrom of Nashville Bio

    This week on The Genetics Podcast, Patrick is joined by Leeland Ekstrom, CEO and co-founder of Nashville Bio. They discuss how Leeland went from being a consultant on a project for Vanderbilt University to a co-founder of a start-up and the unique aspects of NashBio’s clinical and genetic database. Show Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to Leeland and the origin story of Nashville Bio 05:13 Process of setting up NashBio’s genome resource with 250K individuals 11:52 How different pharmaceutical companies responded to NashBio’s database and its unique advantages compared to others 17:50 Key priorities for applications of the resource beyond target discovery 20:19 The process of selecting additional gaps that NashBio’s services can fill versus letting others fill them 25:02 Advantages at Vanderbilt Medical Center that facilitated the project and how it can be replicated at other centers 30:32 Immediate and long-term impacts of current NIH funding cuts on biotech and academia 36:43 NashBio’s current major focuses and future goals 39:20 Closing remarks Find out more NashBio (https://nashbio.com/) Press release: Alliance for Genomic Discovery completes 250,000 whole genomes to accelerate drug discovery (https://www.illumina.com/company/news-center/press-releases/press-release-details.html?newsid=b4b0c901-f8a2-4802-a4ef-b81167e24cfe)  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

    41 min
  7. 20 MAR

    EP 179: Redefining rare disease realities with Sharon Terry of the Genetic Alliance

    This week on The Genetics Podcast, Patrick is joined by Sharon Terry, President & CEO of Genetic Alliance. They discuss how Sharon established a layperson-led biobank, her long-term work on rare diseases and patient advocacy, and her program to bring genetic technology to patients in low- to middle-income countries. Show Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to Sharon and a discussion of the personal experience with rare disease that started her journey 03:47 Reasons why Sharon decided to establish the first layperson-led biobank 05:34 Challenges with setting up the biobank infrastructure 07:00 Balancing financial factors in a non-profit organization  09:30 Recent patterns and future insight into rare disease drug discovery framework and regulation 15:32 Barriers to widespread collaboration and cooperation in rare disease research, and why it should be approached from a public health perspective 18:12 Background and experiences from the iHope Genetic Health program in low- to middle-income countries 24:44 Sharon’s perspective on current challenges with the Genetic Information Non-discrimination Act 28:49 Sharon’s lessons learned in her patient advocacy and policy work, and her hopes for future legislation   33:04 Sharon’s hopes for improved access to genetic testing and treatment for children in underserved communities 34:34 How Sharon learned about rare diseases and genetics as a “homeschooling mom without a degree” 37:54 Insights into how elements of spirituality can support advocacy work 40:18 Closing remarks Find out more Genetic Alliance (https://geneticalliance.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

    42 min
  8. 13 MAR

    EP 178: Expanding the human proteome to facilitate drug discovery with John Lepore of ProFound Therapeutics

    This week on The Genetics Podcast, Patrick is joined by Dr. John Lepore, physician-scientist and CEO of ProFound Therapeutics. They discuss ProFound Tx’s mission to expand the proteome to identify novel drug targets – which resulted in the ProFoundry atlas – and the ways in which John’s diverse experiences inform his approach as a leader. Show Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to John 02:01 John’s background at GSK and his transition to drug discovery 05:45 Establishing ProFound Therapeutics to expand the proteome and identify novel drug targets  08:27 Genomic origins of newly-identified proteins and the process of finding them 09:49 Developing the ProFoundry atlas and integrating data across assays  15:27 Different approaches to inferring protein links and association to disease 17:13 Collaboration with Pfizer to find regulators in the context of obesity 18:04 Developing novel antibody-drug conjugates for cancer treatment 20:27 Clarifying causality in proteomic data 21:59 Approaching novel targets while considering industrial and business factors 25:19 John’s background as a cardiologist and how that impacts his current work 27:26 Tips for biotech companies looking to be noticed by pharma for collaborations 30:30 Considerations for investigating new and different therapeutic modalities and techniques 33:39 How John consistently reinforces the translational angle as a business leader 36:24 Closing remarks and future direction for ProFound Therapeutics Find out more ProFound Therapeutics (https://www.profoundtx.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

    40 min

About

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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