The Genetics Podcast

Sano Genetics
  • 4.8 (44)
  • 自然科学
  • 两周一更

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. 5天前

    EP 204: Bringing cardiovascular genetics and biobank discoveries into the clinic with Samuli Ripatti of the University of Helsinki

    This 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 the power of the FinnGen biobank.  Show Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to Samuli 01:48 Samuli’s path from statistics to genetics at the beginning of a new era 03:09 Remembering Leena Peltonen and the Human Genetics Summer School 05:46 Samuli’s research in lipid and cardiovascular genetics and the power of collaboration 09:14 Integrating polygenic risk scores into cardiovascular and breast cancer care 14:52 Using medication history in FinnGen to uncover cardiometabolic genetics and predict treatment patterns 18:50 The future of polygenic risk scores in predicting prognosis and guiding treatment 21:21 The confounding effect of treatment in genetic studies 23:14 Overview of FinnGen and its impact on genetics and drug discovery 27:04 The next 5 years in proteomics and molecular profiling to move beyond associations 29:56 Using polygenic risk scores in clinical trials 31:41 Future directions, from refining phenotypes in large biobanks to piloting clinical applications of polygenic risk scores 34:04 Scaling population biobanks versus deep phenotyping and why the future requires both 35:29 Closing remarks Find out more Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases (https://www.nature.com/articles/s41591-022-02122-5) 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

    37 分钟

  2. 9月4日

    EP 203: Building the tools behind modern genomics with Jonathan Marchini of Regeneron

    This 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 exomes with imputation remain more powerful than whole genomes for discovery at Regeneron. Show Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to Jonathan 01:47 Jonathan’s career path from teaching in rural Tanzania to genomics research at Oxford 04:43 Lessons from the HapMap era and the birth of imputation 08:30 Ongoing challenges with data sharing and usable tools  10:30 Handling massive genetic datasets at Regeneron and developing new computational methods to scale 15:26 Key discoveries from the million-exome paper 18:04 Pushing computational limits in meta-analysis  19:50 Polygenic risk scores in the clinic and their role in trial design 23:38 Why Regeneron prioritizes exomes with imputation over whole genomes and what that means for discovery 27:58 Where AI truly adds value in genomics and where simpler models still win 32:27 Interpreting rare variants, the promise of protein models, and why better phenotyping is key 35:31 Closing remarks and opportunities at Regeneron Find out more Regeneron Genetics Center (https://www.regeneron.com/science/genetics-center) Million exome paper (https://www.nature.com/articles/s41586-024-07556-0) 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

    38 分钟

  3. 8月28日

    EP 202: Biotech at the intersection of science and politics with Max Bronstein of Aviva Strategies

    This 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 Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to Max 01:51 Regulatory shifts and FDA challenges under the new administration 05:40 Overview of the regulatory process for therapeutic development and the push for patient-centered trials 11:26 Challenges in drug development from regulatory gaps to shifting FDA priorities 15:45 Unprecedented government turnover and its impact on biotech industry stability 18:32 Status and significance of the pediatric priority review voucher program for rare and ultra-rare disease development 22:02 How Congress uses “must-pass bills” to advance or block health policies 25:17 Max’s role in creating Advanced Research Projects Agency for Health (ARPA-H) to drive high-risk innovation  30:02 How ARPA-H is funded  31:21 Adapting science policy to politics 33:35 Breakthroughs in rare disease therapies and the policy frameworks needed to ensure access 37:15 Lessons from the Orphan Drug Act and why new incentives are needed to make ultra-rare disease drug development viable 39:23 The push for flexible rare disease trial pathways and the disconnect between FDA rhetoric and practice 43:26 Closing remarks and a call to connect for patient organizations and rare disease parents Find out more Aviva Strategies (https://www.avivastrategies.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 分钟

  4. 8月21日

    EP 201: The gene therapy playbook: Successes, setbacks, and the path forward with Richard Wilson of Astellas

    This 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 precision medicine drug development. Show Notes:  0:00 Intro to The Genetics Podcast 00:59 Welcome to Richard 01:33 Current wins and challenges in gene therapy  07:13 The need for more open non-competitive data sharing and a clearer pathway towards reimbursement and incentivization 11:15 Building post-approval systems into the genomic medicine lifecycle 14:47 Rethinking evidence standards in rare disease trials, and the global push for regulatory and reimbursement alignment 20:28 Genetic medicine breakthroughs in central nervous system diseases 22:25 The challenges of starting clinical development with an end in mind 24:34 The need for careful analysis around endpoints, vector design, and delivery approaches 29:33 Navigating regulatory hurdles when making mid-program changes to vectors or payloads 31:16 Strategies for enhancing scalability and quality of gene therapy manufacturing  36:05 Exploring other delivery methods beyond AAV 39:32 Getting ready for the Timmerman Traverse and raising nearly $1M for Life Science Cares 43:48 A call to refocus on patients, partnership, and purpose in uncertain times 45:55 Closing remarks  Find out more Astellas (https://www.astellas.com/) Timmerman Traverse fundraising for Life Science Cares (https://timmermantraverse.blackbaud-sites.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

    47 分钟

  5. 8月14日

    EP 200: From predictions to breakthroughs in genetics and biotech

    This 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 potential impact of the UK Biobank, Daphne Koller on uniting biology and machine learning, and Vineeta Agarwala on harnessing large datasets for drug discovery. Patrick adds updates and reflections on how these bold ideas have shaped the genomics and biotech landscape. Show Notes: 0:00 Intro to The Genetics Podcast 00:59 Overview of episode content and guests featured 01:47 Eric Topol predicts the role of AI in healthcare in 2019 05:58 Patrick’s reflections on AI’s progress today and future potential 06:57 Laurence Reid outlines Decibel Therapeutics’ gene therapy plans for otoferlin-related hearing loss 10:58 Patrick’s updates on Decibel’s success and acquisition by Regeneron 11:44 Sir Rory Collins on the creation and vision of the UK Biobank 18:20 Patrick on the lasting impact of open science and the UK Biobank 19:10 Daphne Koller on building insitro to fuse biology and machine learning 24:30 Patrick on the future of large-language models in biology 25:55 Vineeta Agarwala on investing in large datasets for drug discovery 32:24 Patrick on applying multi-omic data to rare disease research 32:52 Closing remarks Find out more The Genetics Podcast is now on Instagram! Follow us for clips from recent episodes and release announcements (https://www.instagram.com/thegeneticspodcast/). 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

    35 分钟

  6. 8月7日

    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

    This 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-type vulnerabilities and convergent pathways, and why this approach could transform therapeutic development by identifying shared mechanisms across diverse genetic mutations. Show Notes:  0:00 Intro to The Genetics Podcast 00:58 Welcome to Xin  01:52 Overview of in vivo Perturb-seq 05:10 Identifying de novo variants in autism spectrum disorder 09:00 Using perturbations to map how autism-linked mutations affect specific brain cell types 13:04 Applying Perturb-seq to other brain diseases 14:30 In vivo versus in vitro models and extending genetic screening approaches beyond the brain 18:44 Using in vivo models to trace variant effects, rank gene drivers, and uncover therapeutic pathways 22:35 Conservation of genes between mouse and human in the context of neurodevelopmental disease modeling  24:21 Impact of genetic discoveries on drug development by convergence onto common pathways  27:22 Xin’s early interest in science through her grandfather’s work in plant taxonomy and botany 29:48 Xin’s path from China to MIT and how early research shaped her scientific mindset 31:58 Reflections on AI’s rapid progress and limits in biology, and the need for new models  37:21 Closing remarks Find out more Jin lab (https://www.jin.scripps.edu/) In vivo Perturb-seq explainer video (https://vimeo.com/549737357) 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

    37 分钟

  7. 7月31日

    EP 198: Reimagining clotting disorders: Patient voices and “unreasonable” leadership with Benny Sorenson of Hemab Therapeutics

    This 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 Genetics Podcast 00:59 Welcome to Benny 01:49 Reimagining blood clotting therapies by listening to lived experience and embracing the biotech revolution 04:27 How persistence and patient voices sparked Hemab’s first drug development program 07:13 Overview of Glanzmann Thrombasthenia (GT) and Hemab’s antibody-based approach 10:09 Evolution of hemophilia treatment and neglected blood clotting disorders 14:18 Genetic and gender considerations around bleeding disorders 17:41 Hemab’s range of therapeutic modalities and the value of collaboration  21:00 Why deep domain expertise drives Hemab’s strategy and success 22:55 Lessons from the drug development process 24:16 Global insights into gender bias, health inequality, and bleeding disorder care 26:46 Upcoming milestones at Hemab  29:52 Lessons from running natural history studies to capture the patient experience 33:25 Redefining the patient journey through data 34:40 How Benny’s experience at Alnylam Therapeutics shaped his “unreasonable” leadership 38:16 Reflections on being a father and a CEO  40:38 Closing remarks and Benny’s commitment to thoughtful drug development Find out more Hemab Therapeutics (https://www.hemab.com/) Hemab trial register (https://shorturl.at/8AAQN)  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 分钟

  8. 7月24日

    EP 197: From biobanks to breakthroughs: Linking genomics to drug discovery with Heiko Runz of insitro

    Summary:  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 models in drug discovery. Show Notes:  0:00 Intro to The Genetics Podcast 00:58 Welcome to Heiko 01:41 Heiko’s career path and how he became interested in medical genetics and therapeutic development 05:49 Connecting the dots across biobanks for genetic discovery 08:23 Heiko’s discovery of a potential gene target for age-related macular degeneration 15:29 The challenge of biobank recontact and why it’s essential for follow-up studies 18:57 The opportunity for smaller companies to follow up on large-scale genomic discoveries 23:00 Advances in cell-based models for neuroscience drug discovery 24:40 Heiko’s role in the development of tofersen for SOD1 ALS    28:50 Targeting TDP-43 in ALS through large-scale cell-based phenotyping and drug discovery 30:36 Using cell-based phenotypes to functionally test disease mechanisms and validate variants 33:58 The potential of AI for refining phenotypes and generating drug hypotheses 36:47 Heiko’s advice to early career professionals interested in the field of genetics and drug discovery 38:26 Closing remarks  Find out more insitro (https://www.insitro.com), study on CFHR5 (https://www.nature.com/articles/s41467-025-61193-3) 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 分钟
查看全部 204 集

4.8
共 5 分
44 个评分

关于

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

信息

  • 创作者
    Sano Genetics
  • 活跃年份
    2019年 - 2025年
  • 单集
    204
  • 分级
    儿童适宜
  • 版权
    © Sano Genetics
  • 节目网站
    The Genetics Podcast

你可能还喜欢