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Sano Genetics द्वारा प्रदान की गई सामग्री. एपिसोड, ग्राफिक्स और पॉडकास्ट विवरण सहित सभी पॉडकास्ट सामग्री Sano Genetics या उनके पॉडकास्ट प्लेटफ़ॉर्म पार्टनर द्वारा सीधे अपलोड और प्रदान की जाती है। यदि आपको लगता है कि कोई आपकी अनुमति के बिना आपके कॉपीराइट किए गए कार्य का उपयोग कर रहा है, तो आप यहां बताई गई प्रक्रिया का पालन कर सकते हैं https://hi.player.fm/legal।
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<div class="span index">1</div> <span><a class="" data-remote="true" data-type="html" href="/series/in-her-ellement">In Her Ellement</a></span>
AI and digital expert Suchi Srinivasan and fintech practice leader Kamila Rakhimova from Boston Consulting Group (BCG) talk to the women at the vanguard of business, digital, and technology. They’re digging into how these powerhouse leaders got where they are—everything from the joy of projects gone right to the realities of family responsibilities. And crucially, asking: what was that moment you knew you weren't merely getting there...you had arrived? That's when you know you're in your element.
EP 131: The potential of somatic genomics in drug discovery and development with Jake Rubens
Manage episode 413195222 series 2631947
Sano Genetics द्वारा प्रदान की गई सामग्री. एपिसोड, ग्राफिक्स और पॉडकास्ट विवरण सहित सभी पॉडकास्ट सामग्री Sano Genetics या उनके पॉडकास्ट प्लेटफ़ॉर्म पार्टनर द्वारा सीधे अपलोड और प्रदान की जाती है। यदि आपको लगता है कि कोई आपकी अनुमति के बिना आपके कॉपीराइट किए गए कार्य का उपयोग कर रहा है, तो आप यहां बताई गई प्रक्रिया का पालन कर सकते हैं https://hi.player.fm/legal।
0:00 Intro
0:40 Jake’s experiences as a serial entrepreneur starting five companies with a basis in genomic science
5:30 Opportunities for research and drug development in the realm of somatic science
9:20 Somatic evolution and how it provides valuable insights into disease mechanisms
12:30 Advantages and disadvantages of studying germline genome-wide association studies (GWAS) versus somatic genomes for target and drug discovery
17:00 How germline and somatic mutations can complement one another when studying conditions like MASH, autoimmune disorders, infectious diseases, and more
21:10 The method behind obtaining and analysing tissue samples
24:00 The importance of high resolution for somatic variation
29:30 “The genetics superhero”: How somatic variations can rescue maladaptive germline mutations
32:00 How to obtain tissue samples of hard-to-reach areas of the body, like the brain
33:00 How somatic genome can increase the scale of DNA data available
36:00 Best practices for scientific entrepreneurship
44:50 Jake’s predictions for the next big breakthroughs in genetics and precision medicine
48:20 Closing remarks
Please consider rating and reviewing us on your chosen podcast listening platform!
199 एपिसोडस
Manage episode 413195222 series 2631947
Sano Genetics द्वारा प्रदान की गई सामग्री. एपिसोड, ग्राफिक्स और पॉडकास्ट विवरण सहित सभी पॉडकास्ट सामग्री Sano Genetics या उनके पॉडकास्ट प्लेटफ़ॉर्म पार्टनर द्वारा सीधे अपलोड और प्रदान की जाती है। यदि आपको लगता है कि कोई आपकी अनुमति के बिना आपके कॉपीराइट किए गए कार्य का उपयोग कर रहा है, तो आप यहां बताई गई प्रक्रिया का पालन कर सकते हैं https://hi.player.fm/legal।
0:00 Intro
0:40 Jake’s experiences as a serial entrepreneur starting five companies with a basis in genomic science
5:30 Opportunities for research and drug development in the realm of somatic science
9:20 Somatic evolution and how it provides valuable insights into disease mechanisms
12:30 Advantages and disadvantages of studying germline genome-wide association studies (GWAS) versus somatic genomes for target and drug discovery
17:00 How germline and somatic mutations can complement one another when studying conditions like MASH, autoimmune disorders, infectious diseases, and more
21:10 The method behind obtaining and analysing tissue samples
24:00 The importance of high resolution for somatic variation
29:30 “The genetics superhero”: How somatic variations can rescue maladaptive germline mutations
32:00 How to obtain tissue samples of hard-to-reach areas of the body, like the brain
33:00 How somatic genome can increase the scale of DNA data available
36:00 Best practices for scientific entrepreneurship
44:50 Jake’s predictions for the next big breakthroughs in genetics and precision medicine
48:20 Closing remarks
Please consider rating and reviewing us on your chosen podcast listening platform!
199 एपिसोडस
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The Genetics Podcast
1 EP 170: Pan-European collaboration and dementia research with Angela Bradshaw, from Alzheimer Europe 42:25
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42:250:00 Intro to The Genetics Podcast 01:50 Welcome to Angela and how she joined Alzheimer Europe 05:38 The biggest priorities and areas of focus for dementia and Alzheimer’s Disease (AD) research 09:42 Biomarkers for dementia and how early in disease development they can be utilized 12:12 The heterogeneity of dementia and AD and current understanding of subtypes and treatment journeys 16:07 The challenges of diagnosis, early identifiers, and the integration of genetics 19:15 Angela’s view on the latest breakthrough therapies 23:43 Partnering in and supporting dementia research efforts across 30+ European countries 28:48 Reimbursement frameworks and shared regulations across different countries 33:10 Angela’s thoughts on the near future of gene therapies for AD and dementia 37:35 Why Angela spent 50 hours traveling the length of Australia by bus 41:10 Closing remarks Find out more Alzheimer Europe Please consider rating and reviewing us on your chosen podcast listening platform!…
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The Genetics Podcast
1 EP 169: Common variants in rare neurological diseases with Hilary Martin of the Wellcome Sanger Institute 45:39
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45:390:00 Intro to The Genetics Podcast 01:42 Welcome to Hilary and her background at the Wellcome Sanger Institute 03:04 Key areas of focus for Hilary’s research group: neurodevelopmental disorders and consanguinity 04:29 Exploring the role of common variants in rare neurodevelopmental disorders 08:18 Liability threshold model and its application to neurodevelopmental disorders 13:11 Direct versus indirect genetic effects and their implications 23:56 Parental assortment, common variants, and rare variant correlations 25:48 Lay summaries and FAQs: making complex genetic research accessible to families 28:17 The future of clinical testing: polygenic and monogenic contributions 30:32 How Hilary became interested in consanguinity and its genetic impact 33:19 Hilary’s team’s future focus and extending work on common variants in neurodevelopmental conditions 34:28 Insights from the latest preprint on birth cohorts and cognitive performance 39:32 Hilary’s family background in genetics and her career journey 42:33 Closing remarks, collaboration opportunities, and ambitions for future research. Find out more Nature paper: Examining the role of common variants in rare neurodevelopmental conditions Genes and Health Project Please consider rating and reviewing us on your chosen podcast listening platform!…
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The Genetics Podcast
1 EP 168: A world-first in RNA medicines with Erik Ingelsson, Chief Scientific Officer at Wave Life Sciences 37:54
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37:540:00 Intro to The Genetics Podcast 01:00 Welcome to Erik 02:05 Key differences between DNA and RNA editing 05:25 Wave’s recent world-first finding in Alpha-1 Antitrypsin Deficiency 08:17 Dosage regularity and delivery process for edited RNA therapies 14:08 Next steps for Wave’s new discovery, including potential applications in other conditions 17:41 Using genetic targets to inform areas of focus and RNA treatment development 24:04 The GLP1 mechanism in human genetics and its role in obesity 25:43 Erik’s transition from big pharma to biotech and the resulting changes in his approach to treatment development 31:02 What has driven Erik to explore and experience a wide range of roles throughout his career 34:29 The importance of balancing fatherhood with a thriving career, and how Erik works to do so successfully 38:35 Closing remarks Find out more wavelifesciences.com Erik Ingelsson Please consider rating and reviewing us on your chosen podcast listening platform!…
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The Genetics Podcast
1 EP 167: Research Roundup with Dr. Veera: Wrapping up 2024 in four pioneering papers 1:15:45
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1:15:4500:00 Intro to The Genetics Podcast 01:00 Welcome back to Veera and topics to be covered 03:50 Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants, including: Focusing on recent findings related to Huntington’s HTT repeat expansion in striatal neurons Leveraging newly-sequenced GWAS data from the UK Biobank and All of Us cohorts to study short tandem repeats (STRs), particularly the CAG triplet repeat Identifying multiple participants with expanded repeats exceeding 45 base pairs, revealing that three genetic sites account for over 97% of these expansions Exploring factors that may prevent or impact the phenotypic manifestation of repeat expansions Read the paper 30:51 The impact of lipids in protecting against pathogenic APOE and Alzheimer’s disease (AD) Investigating how different haplotypes interact with low-density lipoprotein receptors in neuronal tissues, influencing cholesterol lipid transport and AD risk Examining lipid profiles in APOE carriers, including elevated low-density lipoprotein cholesterol levels in APOE4 carriers and decreased levels in APOE2 carriers, and their effects on cholesterol and nutrient supply to neurons Exploring gene therapy approaches for delivering APOE2 into the brain Read the paper 44:20 How low frequency genetic variants can impact the age of menopause onset Exploring the relationship between age of menopause and ovarian function Addressing the challenges in studying recessive genetic associations Examining how homozygosity of a variant in the CCDC201 gene influences primary ovarian insufficiency and strongly associates with early menopause Read the paper 57:58 GUARDIAN: Expanding screening for newborns to include targeted genome sequencing Examining the 72% participation rate among invited families and the 90% consent rate for expanded panel screening Exploring opportunities for early treatment and preventive interventions Ensuring databases are representative across diverse populations Tune into Episode 117 to hear from the leader of the GUARDIAN program, Wendy Chung 01:11:54 Predictions for 2025 and closing remarks!…
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The Genetics Podcast
1 EP 166: Developing targeted therapies for ALS with Eric Green from Trace Neuroscience, Maze Therapeutics, and Stanford University 42:55
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42:550:00 Intro to The Genetics Podcast 01:00 Welcome to Eric, his background in cardiology, and how he got into biotech 05:20 Eric’s experience incubating and spinning out early-stage companies with Third Rock Ventures and developing Maze Therapeutics 08:10 Eric’s decision to transition from academia to the world of biotech 10:21 Building Maze Therapeutics and Eric’s focus on and genetic modifiers to discover new drugs 14:06 The growth of therapeutic modalities in the context of genetics and gene therapies 15:45 What led Eric to launch Trace Neuroscience and focus on ALS and other neurological disorders 22:10 Eric’s work on the UNC13A gene and bringing new hope to the development of ALS therapies 27:32 The process of getting Trace’s ALS therapies into the clinic 31:19 The identification of therapeutic value in low odds ratio genes 34:55 Eric’s view on the APOA1 gene target and its major effect size in kidney disease 39:00 How best to integrate genetics and genetic discovery into small and medium biotechs 40:47 Closing remarks Find out more traceneuro.com…
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The Genetics Podcast
1 EP 165: Harnessing CRISPR and RNA editing to transform healthcare with Dr. Ness Bermingham 53:04
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53:040:00 Introduction 1:29 Ness’ journey to becoming an entrepreneur and first-time founder. 5:37 Discussing CRISPR Therapeutics and its application in treating sickle cell disease. 7:43 Exploring the potential of RNA therapies and Ness’ work at Korro Bio. 11:29 Balancing scientific discovery with commercial viability in alpha-1 antitrypsin therapies for lung and liver diseases. 14:55 Creating a vision, setting realistic goals, and managing capital in early-stage biotech companies. 19:42 Differentiating biotech companies that use the same platform technologies, such as RNA editing. 24:19 Addressing regulatory barriers in drug development and exploring phenotypic manifestations of diseases. 28:53 Discussing bottlenecks in biotechnology, including drug delivery, regulation, patient segregation, and reimbursement. 33:02 Exploring how to price cures based on the financial burden saved by the healthcare system. 35:31 Sharing insights on Khosla Ventures’ investment in OpenAI and the impact of AI in biotech. 41:28 Discussing the role of AI in identifying drug targets, increasing impact rates, and enhancing patient safety. 43:32 Introducing Ness’ podcast, Between the BioTech Waves . 46:23 Discovering what advancements in biotechnology Ness is most excited about. 51:40 Closing remarks. Please consider rating and reviewing us on your chosen podcast listening platform!…
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The Genetics Podcast
1 EP 164: Groundbreaking advances in MMR-deficient rectal cancer, liquid biopsies, and precision oncology with Dr. Luis Diaz 47:12
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47:120:00 Introduction 1:48 Welcome to Dr. Diaz 2:19 Insights from Dr. Diaz’s groundbreaking clinical trial on treating MMR-deficient rectal cancer patients with dostarlimab, which achieved an astonishing 100% complete tumor regression without chemotherapy, radiation, or surgery. 2:45 The origins of this breakthrough study, spanning decades of work in rectal cancer 3:45 How cancer genomics and immunotherapy link, or as Dr. Diaz puts it, “the marriage between cancer genomics and immunotherapy” 7:37 Recurring themes of DNA mismatch repair and microsatellite tumors in early tumorigenesis 10:01 The hypothesis that high mutational burden with immune checkpoint inhibition would lead to therapeutic responses for cancer 15:28 FDA approval for checkpoint inhibitors to treat tumors at any site exhibiting mismatch repair deficiency, which opened the floodgates for tumor agnostic indicators moving forward 18:31 Preventing polyp formation in colon cancer in order to delay cancer progression 23:04 The game-changing use of liquid biopsy for non-invasive cancer detection: how it works and its potential to become a routine tool in the clinic 30:28 Using machine learning and other technological advancements to address biological limitations to early cancer detection 34:21 Improving the signal-to-noise ratio to enhance resolution and detect tumorigenic mutations through stable and specific biological markers 40:04 The potential for those in other fields, such as lung and brain diseases, to learn from Dr. Diaz’s work in cancer therapeutics and early detection 45:47 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!…
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The Genetics Podcast
1 EP 163: The intersection of loss and genetic insight with Susan Liebman of University of Nevada 44:20
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44:200:00 Intro to The Genetics Podcast 01:00 Welcome to Susan, and an introduction to The Dressmaker's Mirror and the personal experience that inspired her to write it 03:17 How a question she asked her book club sparked the idea for a family memoir, intertwining personal stories and the impact of genetics. 04:28 The heartbreaking story of Susan’s niece, whose sudden tragic death was a result of an undiagnosed genetic condition 08:11 How Susan pieced together the clues pointing to genetic heritability, uncovering the cause of her niece's death and shedding light on the implications for her family 11:38 Susan’s personal experience of whole genome sequencing within her own family 15:04 The role of Susan’s Ashkenazi Jewish heritage in her family’s diagnostic journey to dilated cardiomyopathy 16:20 The importance of genetic screening, managing potential health outcomes, and the ethics of sharing results 19:32 Understanding the potential for mutations to have different impacts within different ethnic groups 21:00 The challenges of managing edge cases, understanding penetrance, and the need for dynamic knowledge transfer as the volume of available genetic data rapidly expands 23:44 Defining “actionability” in the context of genetic results and what it could mean for the next generation 25:53 Susan’s career and work in yeast genetics and its translation to human disease 30:35 Her experience being part of the first ever cohort of women to live on campus at MIT 34:20 The Westinghouse Science Fair project that won her a place at MIT 36:25 How Susan went from aspiring to be a grade school teacher to becoming a research scientist and professor 37:31 Advice to early career scientists on grant applications and beyond 39:49 Closing remarks Find out more The Dressmaker’s Mirror…
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The Genetics Podcast
1 EP 162: The genetics of isolated communities with Professor Jim Wilson of the University of Edinburgh 40:33
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40:33Show Notes: 0:00 Intro to The Genetics Podcast 01:00 Welcome to Jim 01:40 The most impactful discoveries of Jim’s work across more than 25 Scottish islands as part of the Viking Genes project 05:00 The increased prevalence of BRCA mutations and founder effects in specific island populations 07:45 Population sizes on the islands Jim studies 09:01 Islander screening today, how Jim and his team are taking genetic screening programs forward, and the impact of founder effects on population health 13:00 Raising awareness of the importance of genetic screening within isolated populations 14:50 How the Jewish community is at the forefront of screening for populations at increased risk of specific genetic conditions 17:19 Factors that cause delays in implementation of screening for at-risk populations 20:29 Mapping Prince William’s mitochondrial DNA and working with Westminster to raise awareness of genetic screening 23:07 Shared ancestries and the deep interconnections within our DNA, revealing how populations are far more intertwined than we often realize. 25:43 Key actionable findings from Jim’s work with isolated Scottish communities (Find the link to the paper below) 29:10 Current knowledge and understanding of global isolated communities 31:27 How the majority of people want to receive genetic results and have knowledge of potential health impacts and actionable findings 33:03 Jim’s IFTA winning work with the Irish Traveller community 35:05 The power of genetics and screening to deliver preventative medicine and improved health outcomes for isolated communities. 39:18 Closing remarks Find out more: Viking Genes Project - http://viking.ed.ac.uk Jim’s latest research papers - https://www.research.ed.ac.uk/en/persons/jim-wilson/publications/ Preprint: Identification of actionable genetic variants in 4,198 Scottish volunteers from the Viking Genes research cohort and implementation of return of results - https://www.medrxiv.org/content/10.1101/2024.11.01.24316571v1…
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The Genetics Podcast
1 EP 161: How large language models can help build immunotherapies with Michelle Teng of Etcembly Ltd. 50:35
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50:350:00 Intro to The Genetics Podcast 01:00 Welcome to Michelle 01:35 Explaining immunotherapy and its evolution over the past decade 04:10 Current insights on immunotherapy responders and the underlying factors driving varied individual responses 05:50 The latest generation of T-cell receptor therapies 08:53 The origin of the Long Term Survivor Study, its purpose and how it informs discovery of new T-cell receptor therapies 12:32 How Etcembly is characterising T-cells and antibodies in survivor profiles 15:00 Using machine learning to understand the immune system 18:44 The complexity of Human Leukocyte Antigen (HLA) and how it relates to differences in T-cell receptor biology 22:35 T-cell repertoires in Long Term Survivor Study participants 26:06 Training LLMs in immune system biology, data and more 27:54 Michelle’s work at Immunocore and how she’s applied her knowledge to grow Etcembly 33:02 Setting up a new company at the crossroads of the Covid-19 pandemic and the inception of LLMs and AlphaFold 35:54 Current bottlenecks in pre-clinical immunotherapy development 37:23 Michelle’s eldest daughter’s experience with an ultra-rare genetic disease and the founding of SynaptixBio 43:34 Utilising biobanks and registries to better understand ultra-rare disease presentation 47:05 The power and importance of patient parent groups for developing rare disease treatments 48:48 Closing remarks Find out more www.etcembly.io www.synaptixbio.com…
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The Genetics Podcast
1 EP 160: Artificial Intelligence, GWAS in Drug Discovery, and Career Insights with Dr. Eric Fauman, Executive Director and Head of Computational Biology in the Internal Medicine Research Unit at Pfizer 52:25
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52:250:00 Introduction 1:30 The power of social media: How Eric published 10 papers based on ideas that he discussed on Twitter 5:50 Explanation of The Table of Everything, an internal database at Pfizer that catalogs nearly 20,000 human genes and their associated diseases and traits 13:20 How Eric’s team works to correlate genome-wide association study (GWAS) results to real biological phenotypes and outcomes 18:10 Introduction to protein quantitative trait locus (PQTL), including its importance in biological and genetic data 25:10 Examining the evolving bottlenecks in drug development and the challenges of validating genetic targets 28:30 Navigating the gap between genetic hits and biological understanding, and how AI or functional studies could bridge this in target discovery 32:20 Linus Pauling's mentorship of Eric and how he might react to AlphaFold2’s breakthroughs in structural biology 35:15 Eric's take on using AI and how he's experimenting with it on trusted datasets 41:00 An introduction to Mendelian randomization, as well as its strengths and limitations 47:00 How Eric uses the TOP Model (Talent, Opportunity, and Passion) to guide this career choices and path 52:00 Diversity and collaboration in genetics research and implementation 55:00 Closing remarks Resources mentioned throughout the episode: Mendelian Randomization with Proxy Biomarkers Paper: Mendelian randomisation with proxy exposures: challenges and opportunities, I Rahu, R Tambets, EB Fauman, Kaur Alasoo (2024) Explores proxy biomarkers as a method to assess in vivo activity of a protein target. Trait Colocalization and Causal Genes Paper: Integrative analysis of metabolite GWAS illuminates the molecular basis of pleiotropy and genetic correlation, CJ Smith, N Sinnott-Armstrong, A Cichońska, H Julkunen, EB Fauman, Jonathon Pritchard, Elife 11, e79348 Demonstrates how traits with opposing effects on a genetic variant may suggest a causal gene sits between them Metabolite Profiling in Human Knockouts Paper: McGregor TL, Hunt KA, Yee E, et al. Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria, Elife. 2020;9. Published 2020 Mar 24. Community Workshop on Effector Gene Standards Presentation: Watch on YouTube TOP Model for Career Guidance Article: Grab the Helm: How to Take Charge of Your Purpose, Passion, Progress The Table of Everything Overview: Read more on Pfizer’s site UK Biobank Protein QTL Study Paper: Sun, B.B., Chiou, J., Traylor, M. et al. Plasma proteomic associations with genetics and health in the UK Biobank,Nature, 622, 329–338 (2023). Eric’s First GWAS Contribution Paper: Shin SY, Fauman EB, Petersen AK, et al. An atlas of genetic influences on human blood metabolites, Nat Genet. 2014;46(6):543-550. Every Gene Ever Annotated (EGEA) Public Resource: View annotations on GitHub Nine reasons not to use eQTLs to identify causal genes from GWAS: Random Sequences Can Create Regulatory Elements “~83% of random promoter sequences yielded measurable expression” - de Boer CG, Nat Biotechnol, 2020 “Recently evolved enhancers are formed predominantly by exaptation of ancestral DNA” - Villar D, Cell, 2015 “Extensive co-regulation of neighboring genes complicates the use of eQTLs in target gene prioritization” - Tambets R, et al., HGG Adv., 2024 Enhancer Variants and Buffering in Important Genes “eQTLs at GWAS loci are more likely to point to genes with low enhancer redundancy not associated with disease” - Wang X, Goldstein DB, Am J Hum Genet., 2020 “GWAS and eQTL studies are systematically biased toward different types of variants” - Mostafavi H, et al., Nat Genet., 2023 “CNVs are buffered by post-transcriptional regulation in 23%-33% of proteins significantly enriched in protein complex members” - Gonçalves E, et al., Cell Systems, 2017 eQTL Data Limitations vs. Proximity Information “cis-eQTL target genes are relatively poor indicators of ‘true positive’ causal genes” - Stacey D, et al., NAR., 2018 “When molecular QTL colocalization evidence was removed, we saw similar classification results” - Mountjoy E, et al., Nat Genet., 2021 “Key predictive features included coding or transcript-altering SNVs, distance to gene, and open chromatin-based metrics” - Forgetta V, et al., Hum Genet., 2022…
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The Genetics Podcast
1 EP 159: Engineering macrophages to tackle rare disease with Noam Baumatz of Noga Therapeutics 44:17
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44:170:00 Intro to The Genetics Podcast 01:00 Welcome to Noam and discussion of his motivation to drive rare disease forward 03:00 Noam’s daughter Noga’s experience of rare disease, including an 8 to 12 month journey to diagnosis 05:10 How the experience of his daughter receiving a genetic diagnosis motivated Noam to take change into his own hands 10:12 How meeting other families impacted by rare disease led Noam to work on gene therapy for children living with primary immune deficiencies 12:33 How Noga Therapeutics is aiming to reprogram blood stem cells and the potential impact on rare diseases 15:22 Why it’s not yet possible to use the technology to correct gain of function mutations 17:42 How Noga’s program is aiding treatment of multiple primary immune deficiencies 22:25 The techniques the company uses in XLA to modify stem cells and enable expression of a functional copy of the BTK gene 26:30 Why gene therapies don’t always provide a comprehensive solution or cure 28:10 Bridging the gap between transformative therapies and the cost of delivering drugs to very small ultra-rare disease populations 34:41 Noam’s history working in traditional Chinese medicine 39:53 The importance of thinking holistically about health, from understanding g genetic root causes to considering how genes impact whole organ systems 43:15 The collaborative nature of the rare disease community and how parents who want to use their personal experience to further research and advocacy can connect with Noam 44:37 Closing remarks…
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The Genetics Podcast
1 EP 158: Research Roundup with Dr Veera: Discoveries in neurogenetics, evolution, cardiac arrhythmias, and more! 1:11:31
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1:11:310:00 Invitation to The Genetics Podcast meetup 1:30 Intro to The Genetics Podcast 2:30 Welcome to Veera 3:20 The evolution on skin color in humans and their ancestors: Discussion on how a retrotransposon—often called a "jumping gene"—within the ASIP gene (agouti signaling protein) influenced the evolution of skin pigmentation in humans and their ancestors. ASIP, a paracrine hormone produced by skin cells, plays a key role in determining skin color. Veera’s Substack Post: How a Jumping Gene Shaped Human Skin Color Evolution - https://www.gwasstories.com/p/how-a-jumping-gene-shaped-the-human Original Research: Study by Dr. Po-Ru Loh and Dr. Steve McCarroll from the Broad Institute, published in Nature Genetics - https://www.nature.com/articles/s41588-024-01841-4 18:00 - An overlooked tau isoform could unlock an effective drug for Alzheimer’s disease Exploration of big tau, an often overlooked isoform with unique properties that may make it a promising therapeutic target for tauopathies like Alzheimer's disease. The therapeutic mechanism is reminiscent of Casgevy, a gene therapy treatment used for sickle cell disease. Resources: Veera’s Substack Post: The Big Tau: A New Hope for Alzheimer’s - https://www.gwasstories.com/p/the-big-tau-a-new-hope-for-alzheimers Original Research: Study from Dr. Huda Zoghbi’s lab on how the big tau splice isoform resists Alzheimer’s-related pathological changes - https://www.biorxiv.org/content/10.1101/2024.07.30.605685v1 34:10 Protecting cortical neurons from herpes simplex virus An international team of researchers, led by Jean-Laurent Casanova and Yi-Hao Chan at Rockefeller University, has discovered that tomoregulin-1 (TMEFF1), a neuronal membrane protein, protects human cortical neurons from herpes simplex viral infection. The gene responsible for producing TMEFF1 encodes a viral restriction membrane protein that prevents viruses from entering brain cells, offering potential therapeutic insights. Veera’s Substack Post: Discovery of TMEFF1, a viral restriction factor in the human brain - https://www.gwasstories.com/p/discovery-of-tmeff1-a-viral-restriction Original Research: Study by the Jean-Laurent Casanova Lab at Rockefeller University, Human TMEFF1 is a restriction factor for herpes simplex virus in the brain - https://www.nature.com/articles/s41586-024-07745-x 47:30 KCNB1 and a novel cardiac arrhythmia syndrome A genetic investigation into cardiac arrhythmias has identified a new noncoding Mendelian disease mechanism stemming from a rare Mendelian disorder. Veera’s Substack Post: De novo enhancer creation by a noncoding mutation - https://www.gwasstories.com/p/de-novo-enhancer-creation-by-a-noncoding Original Research: A novel familial cardiac arrhythmia syndrome with widespread ST-segment depression . The authors note, “We believe this is the first description of an entirely de novo cryptic enhancer causing a Mendelian disorder.” - https://www.nejm.org/doi/full/10.1056/NEJMc1807668 57:40 - Genomes vs. exomes Exploring the cost-effectiveness of whole genome sequencing compared to whole exome sequencing for gene discovery. This segment explores the long-standing debate over exomes versus genomes, highlighting challenges in studying noncoding variants and the value of each approach in the context of common versus rare diseases. Veera’s Substack Post: Genomes vs. Exomes - https://www.gwasstories.com/p/genomes-vs-exomes Original Research: Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank - https://www.nature.com/articles/s41588-024-01930-4 1:10:00 Closing remarks 1:14:30 Outro…
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The Genetics Podcast
1 EP 157: Bridging genomics, business, and equity in healthcare access with Mark Taylor of LGC Group 35:40
35:40
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35:400:00 Invitation to The Genetics Podcast meet up 1:30 Intro to The Genetics Podcast 2:25 Welcome to Mark 3:10 Introduction to the National Institute for Health Research (NIHR) 4:05 Mark’s roles with the NIHR in strategic partnerships 7:35 Challenges patients face in accessing NHS resources and the NIHR’s efforts to streamline availability 13:25 How to scale breakthroughs in precision therapies so they are widely accessible to patients across the NHS: Top-down vs. bottom-up strategies 17:00 Applying principles of cost consequence analysis to NHS strategy 17:45 Misconceptions regarding NHS financing and the allocation of funding for medical innovations 23:20 Best practices for working with under- and mis-represented populations to facilitate development of and access to medical innovations 29:45 East London Genes & Health and Born in Bradford: Two cases where deep engagement and trust building resulted in robust data collection and innovation 32:45 Insights into the D Cyphr Program (DNA, Children, Young People’s Health Resource) aimed at gaining population-level genomic data to address broader health issues such as mental health and diabetes 34:35 Closing remarks…
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The Genetics Podcast
1 EP 156: The Genetics Podcast In-Person Event! 1:32
1:32
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1:32We hope you will join us at our first (of hopefully many!) in-person podcast event! Please use this link to sign up.
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