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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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All About Change
1 Vicki Sokolik - Fighting for Unhoused Youth 31:05
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31:05Vicki Sokolik refuses to be an Ostrich. Her son brought to her attention the crisis of unhoused youth — youth unhoused, not living with a parent/guardian, and not in foster care — in America, and she has been fighting to support this vulnerable population every since. Most active in Tampa Bay, Florida, Vicki is the founder and CEO of the nonprofit Starting Right, Now, which removes barriers for unaccompanied homeless youth to cultivate long-term well-being and self-sufficiency. She is also the author of the new book, “If You See Them: Young, Unhoused, and Alone in America.” Vicki Sokolik joined host Jay Ruderman to discuss the many ways unhoused youth fall through the cracks in our society, how her organization helps them, and also how to build trust with people who could use your help. Episode Chapters (00:00) Intro (01:10) Vicki’s origin story (02:40) What is “unhoused youth?” (06:40) What should a person do if they worry they see an unhoused youth? (08:19) How have conversations around unhoused youth changed in Vicki’s 20 years working with them? (11:02) How do people get the word out and help unhoused youth? (14:55) Vicki’s new book (16:48) How Vicki builds trust (20:10) What do students receive at Starting Right, Now? (22:58) How does Vicki balance advocacy and direct support? (27:53) Starting Right, Now alumni (29:10) Goodbye For video episodes, watch on www.youtube.com/@therudermanfamilyfoundation Stay in touch: X: @JayRuderman | @RudermanFdn LinkedIn: Jay Ruderman | Ruderman Family Foundation Instagram: All About Change Podcast | Ruderman Family Foundation To learn more about the podcast, visit https://allaboutchangepodcast.com/…
EP 138: Personalised medicine using microbiome models with Dr. Almut Heinken
Manage episode 422155723 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 Introduction
1:45 Almut’s research experience, including two recent publications on genome-scale metabolic reconstruction human microorganisms
- Genome-scale metabolic reconstruction of 7,302 human microorganisms for personalized medicine
- APOLLO: A genome-scale metabolic reconstruction resource of 247,092 diverse human microbes spanning multiple continents, age groups, and body sites
8:00 Implications for personalised medicine and drug discovery using microorganisms in colorectal cancer, inflammatory bowel disease, ulcerative colitis, and more
14:30 Using metabolite and microbiome models to predict the effectiveness of medications
18:00 Differences in microbial communities between various ethnicities, nationalities, and races
24:00 Understanding microbiome community models with the goal of informing drug discovery
26:30 The interplay between diet, the microbiome, and nervous system
28:00 How to use predictive models to understand the diet-microbiome relationship
36:00 Upcoming projects studying the gut microbiome and epigenetics
38:30 Comparing a vaginal birth to a caesarean section on the child’s microbial immunity
40:00 Explaining the cause of heterogeneous differences in monogenic diseases
45:00 Closing remarks
Please consider rating and reviewing us on your chosen podcast listening platform!
199 एपिसोडस
Manage episode 422155723 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 Introduction
1:45 Almut’s research experience, including two recent publications on genome-scale metabolic reconstruction human microorganisms
- Genome-scale metabolic reconstruction of 7,302 human microorganisms for personalized medicine
- APOLLO: A genome-scale metabolic reconstruction resource of 247,092 diverse human microbes spanning multiple continents, age groups, and body sites
8:00 Implications for personalised medicine and drug discovery using microorganisms in colorectal cancer, inflammatory bowel disease, ulcerative colitis, and more
14:30 Using metabolite and microbiome models to predict the effectiveness of medications
18:00 Differences in microbial communities between various ethnicities, nationalities, and races
24:00 Understanding microbiome community models with the goal of informing drug discovery
26:30 The interplay between diet, the microbiome, and nervous system
28:00 How to use predictive models to understand the diet-microbiome relationship
36:00 Upcoming projects studying the gut microbiome and epigenetics
38:30 Comparing a vaginal birth to a caesarean section on the child’s microbial immunity
40:00 Explaining the cause of heterogeneous differences in monogenic diseases
45:00 Closing remarks
Please consider rating and reviewing us on your chosen podcast listening platform!
199 एपिसोडस
كل الحلقات
×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!…
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!…
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!…
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!…
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…
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!…
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!…
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…
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…
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…
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…
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…
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…
1 EP 157: Bridging genomics, business, and equity in healthcare access with Mark Taylor of LGC Group 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…
1 EP 156: The Genetics Podcast In-Person Event! 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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The Genetics Podcast
1 EP 155: Adeno-associated virus as a delivery vector for genetic eye disease treatment, with Paul Wille of Abeona Therapeutics 32:18
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32:180:00 Invitation to our first in-person podcast event 1:30 Intro to The Genetics Podcast 2:20 Welcome to Paul 2:53 Adeno-associated virus (AAV) biology and its advantages over other viral vectors 5:20 The gene therapy landscape and options for therapy development and delivery 6:49 The limitations of working with AAV to deliver gene therapy, including genome capacity and challenges with dividing cells 9:37 Why enormous bioreactors and huge volumes are necessary in the AAV manufacturing process 11:22 Why the eye is an ideal target for AAV gene therapy, and the potential of single-dose gene therapies 13:36 Advantages of AAVs in delivering therapies into multiple different cell types 15:17 Moving pre-clinical AAV delivered therapies into a clinical setting 17:52 How Abeona’s therapies aim to address different types of inheritance patterns 18:53 The current landscape of monogenic eye disease and Abeona’s approach to inherited eye conditions 21:38 Exploring current relationships between government, industry, and academia when supporting research for rare diseases 22:27 Paul’s transition from academia to industry 26:12 How the barrier between academia and industry is becoming more porous and bidirectional – and what that means for research 28:06 Paul’s enthusiasm for a cutting-edge area of precision medicine that has yet to gain mainstream attention 30:38 Closing remarks…
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The Genetics Podcast
1 EP 154: Pioneering early disease detection through wearable devices and regular monitoring with Dr. Mike Snyder 41:03
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41:030:00 Introduction 1:00 Overview of Mike’s background and contributions to genomics and preventative medicine, as well as how he first became interested in deep data collection for health monitoring 4:20 The use of various tools, including smartwatches, blood tests, genetic testing, and more, to create a comprehensive view of an individual’s health 7:00 Using wearables to monitor chronic diseases, initiated by Mike’s personal experience with the Lyme disease 13:00 The prevalence of undiagnosed diabetes and the long-term health impacts of being in a borderline or prediabetic state 17:00 The benefits and shortcomings of polygenic risk scores in generating treatment models 19:00 The promise of integrating preventative medicine, wearable devices, and deep data into primary healthcare 25:00 Punctuated points of aging, where rapid changes in biological aging occur at specific and unique stages in a person’s lifespan 31:00 The potential of cell-free DNA in advancing cancer treatments 33:00 The lack of data and digital and biochemical markers for diagnosing and monitoring mental health and neurodegenerative conditions 36:40 The need to incite a cultural shift towards greater data awareness and proactive health monitoring 39:00 Final thoughts: The discrepancy between healthspan and lifespan 42:00 Outro To learn more about Dr. Snyder’s work, explore his book Genomics and Personalized Medicine and his certificate programs offered through Stanford University: Foundations of Genetics and Genomics Fundamentals of Data Science in Precision Medicine and Cloud Computing Fundamentals of AI/ML in Precision Medicine Please consider rating and reviewing us on your chosen podcast listening platform!…
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The Genetics Podcast
1 EP 153: How genomics is re-writing the taxonomy of disease with Lon Cardon, President and CEO of The Jackson Laboratory 40:25
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40:250:00 Intro to The Genetics Podcast 01:00 Welcome to Lon 01:51 Lon’s involvement in the very first GWAS and what drew him to large-scale genomics research 03:32 Was moving away from candidate genes towards GWAS and data sharing initially a controversial idea? 05:25 What Lon believes has driven collaboration and data sharing within research communities 07:38 How and why Lon transitioned from academia to working for GlaxoSmithKline (GSK) 10:43 Why GSK was one of the largest initial investors in genetics and how the company came to have the largest genetics department in the world in the early 2000s 11:46 How the emergence of tens of thousands of biomarkers for genetic diseases has changed the way Lon thinks about the role of genetics in drug discovery 13:29 The future of genetics research and how much that path has diverged from expectations 20 years ago 18:14 The current challenge: From exquisitely precise genetics tools to clumsy phenotype predictions 19:45 Paradigm shifts in the taxonomy of disease 22:29 What it takes to reorganize the taxonomic definition and approach to diseases such as metabolic dysfunction-associated steatohepatitis (MASH) 24:22 The changes needed within biotech and pharma to fully harness the possibilities of genetics in drug development 26:18 What drew Lon to the Jackson Lab, how it has evolved, and what he’s been focused on for the past three years 31:02 The Jackson Lab’s new precision medicine and cancer program, plus future plans for the institute’s legacy 35:56 What Lon has learned about running an international organization and global scientific collaboration 37:30 Lon’s advice to early career scientists on up-and-coming fields and technologies 41:40 Closing remarks…
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The Genetics Podcast
1 EP 152: Unlocking the secrets of gene regulation with Nadav Ahituv, Director of the Institute of Human Genetics at UCSF 42:40
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42:4001:15 - Introductions 02:02 - How our understanding of the non-coding genome has evolved throughout Nadav’s career 04:56 - Our current understanding of non-coding genome grammar 07:40 - Is there a missing piece to the common variant, common disease paradigm? 10:25 - Introducing ultraconserved elements (UCEs) and human accelerated regions (HARs) 12:50 - Can a simple code explain changes in certain regions of the genome? Does this require “messier” solutions, such as large language models? 14:25 - The potential of machine learning 16:56 - Using CRISPR and non-coding elements to treat haploinsufficiency-caused pediatric diseases 20:19 - Nadav’s experience of starting a company 24:44 - How CRISPR A minimizes the risks associated with traditional CRISPR editing 26:04 - How engineering fat cells can starve cancer 32:08 - What’s on the horizon for Nadav’s lab? 34:52 - Bats as unlikely “superheroes,”, and what we can learn from their glucose levels 38:43 - The genetic differences between archaic humans, like Neanderthals and Denisovans, and modern humans 40:33 - Closing remarks…
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The Genetics Podcast
1 EP 151: Understanding cell ageing and its role in disease with Marco Quarta Co-founder and CEO of Rubedo Life Sciences 42:36
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42:360:00 Intro to The Genetics Podcast 01:00 Welcome to Marco 02:00 The areas Marco focused on during his academic career and what motivated him to found his first company 03:18 How our understanding of ageing has changed over the past two decades and some of the current big questions in ageing biology 06:01 How to get a clearer picture of the ageing process within a tissue or cell and if new technologies like single cell genomics can aid this process 11:08 Catalyst or cause? Understanding the role of cellular senescence in disease and how it impacts treatment pathways 12:54 The challenges of building a company that addresses an area of biology which sits at the core of so many diseases and disease types 16:17 Deciding on which therapeutic modality to target when using a platform biology approach 17:57 Identifying the most effective stage at which to intervene in the senescence process and if this changes dependent upon organ system or disease area 24:33 How another company founded by Marco, Turnbio, uses a different approach by focusing on turning back the biological clock rather than understanding the ageing process and intervening 31:08 Addressing if both preventative and intervention approaches are required to comprehensively treat or cure a disease 35:39 Whether there is potential to develop core therapeutics which can have a system-wide effect and address all-cause ageing 40:12 Why ‘biohacking’ therapies can present a risk to the field of ageing biology as a whole, as well as to individuals 41:18 The developing area of science or technology Marco is most excited about and which he believes is going to have a significant impact in the coming years 43:23 Closing remarks Find out more www.rubedolife.com…
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1 EP 150: Cracking the biological code of aging with Martin Borch Jensen, Co-Founder and Chief Scientific Officer at Gordian Biotechnology 44:21
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44:210:00 Intro to The Genetics Podcast 01:00 Welcome to Martin 01:35 How a particularly large Indian meal resulted in a book about intermittent fasting and the biology of ageing 05:10 The biological mechanisms behind intermittent fasting, and whether it’s been established to extend life expectancy in humans. 10:13 What we know (and what we don’t) about the fundamentals of biological ageing and how it influences drug development 15:28 Using trial and error to identify the mechanisms and phenotypes which can improve biological age 17:20 How Gordian Biology got its name and how it links to the challenges of biological ageing 18:52 How and why Gordian’s in vivo screening approach aims to crack the code on biological ageing 23:19 Understanding the biology and genetics which make a disease occur uniquely in older individuals 26:30 How and why Gordian works with specific animal models to generate data 28:28 Exploring if there is potential to minimise use of animal models and carry out more experiments in silico 33:31 The phenomenon of chronological age testing and improvement – and whether or not to believe the hype 39:35 How the lack of sustainable business models in the field may be limiting progress, causing companies to shift their focus to treating age-related diseases instead of tackling the ageing process itself 44:49 The role of technology, and the limitations of siloed specialties and organs-based approaches to disease 46:14 Closing remarks…
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The Genetics Podcast
1 EP 149: Sequencing 33 million samples to support the UK’s COVID-19 response with Tony Cox, CEO of UK Biocentre 34:16
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34:160:00 Intro to The Genetics Podcast 01:00 Welcome to Tony 02:00 What Tony was expecting going into the role of CEO at UK Biocentre, and how the COVID-19 pandemic changed his plans 03:38 Receiving a phone call from the UK government in March 2020 asking the UK Biocentre to stop all of its projects and focus on sequencing COVID-19 samples 05:12 The UK Biocentre’s scale-up process, including how many samples the UK Biocentre sequenced over the course of the pandemic 09:30 The biggest changes that enable sequencing to scale from 1,000 to 100,000 samples per day 13:33 What Tony has learned about how best to implement an accelerated, unified effort to deliver for public health 16:17 The organization’s current focus on large-scale genomics projects such as Our Future Health 18:50 The challenges which need to be overcome to deliver the Our Future Health project 22:19 How UK Biocentre preserves it samples and the logistical challenges involved 24:04 The types of projects that involve the largest-scale levels of sampling and storage 28:12 Figuring out how to integrate a preventive, sample-based approach to healthcare within the parameters of cost and scale 29:27 The future proofing of sample storage techniques 31:33 The importance of consent structure and how to utilize long-term serial sampling 33:24 The upcoming technology or projects that most excite Tony 36:19 Closing remarks Find out more ukbiocentre.com ourfuturehealth.org.uk…
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The Genetics Podcast
1 EP 148: Advancing veteran health through the Million Veteran Program with Dr. Mike Gaziano, professor of medicine at Harvard Medical School 35:13
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35:130:00 Intro 2:00 Mike’s career prior to the Million Veteran Program (MVP), how Mike got to work on MVP, and important milestones in the project's evolution 8:30 Future goals for the Million Veteran Program in expanding and diversifying the research cohort 11:00 The roles of various omics in advancing the project's development 14:30 The most meaningful outcomes of the Million Veteran Program for Mike since its launch in 2011 19:00 Scaling opportunities after the MVP celebrated enrolling its millionth participant in November 2023 25:00 How to approach securing new funding sources as the MVP expands, while maintaining the trust of veterans in safeguarding their data 27:00 Veterans’ motivation for participating in the project: A New Way to Serve 31:00 How research directly informs patient care in the MVP 39:00 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!…
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The Genetics Podcast
1 EP 147: From research to delivering precision medicine in the clinic with Scott Weiss, Professor of Medicine at Harvard University 37:19
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37:190:00 Intro to The Genetics Podcast 01:00 Welcome to Scott 01:55 Scott’s career highlights to date, ranging from epidemiology to the genetics of asthma and chronic obstructive pulmonary disease (COPD) 04:56 How and why Scott decided to transition into genetics 06:30 The advances in our understanding of the genetics of asthma and COPD over the past 20 years 10:00 What Scott has learned about translating genomics discoveries into clinical practice and some of the biggest challenges for implementation 13:23 Tackling the reimbursement system in US healthcare and proving the value of preventive, genomics-based care 18:19 Driving down the cost of genomics initiatives such as newborn sequencing to provide high-value impact to patients 19:45 The long-term journey of taking large-scale, longitudinal multi-omic profiling from a research context into healthcare systems 24:10 Creating health-system-associated biobanks at an effective scale and what’s required to achieve that 29:42 Where Scott believes reimbursed predictive omics will first be applied 32:10 Emerging fields in research and personalized medicine that will be key areas of development and discovery in the coming years 36:53 Large-scale prospective biobanks versus a federated approach which piggybacks on existing data collection 39:45 Scott’s current research focus 42:40 What Scott likes to do in his free time outside of academia 43:41 Closing remarks…
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The Genetics Podcast
1 EP 146: The biology of aging with Austin Argentieri, Research Fellow at Harvard Medical School, Affiliate Member of the Broad Institute, and Research Fellow at Massachusetts General Hospital 43:05
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43:050:00 Intro to The Genetics Podcast 01:00 Welcome to Austin 01:42 What is aging and how should we think about it? 03:50 Discussion of Austin’s recent breakthrough paper on aging, including the questions he set out to answer, and the outcomes of the research 06:32 How Austin’s work focuses on using large-scale population proteomics data to create accurate estimates of biological age across diverse populations 08:10 Understanding aging in people whose protein-predicted age and chronological age diverge significantly 09:40 How a single biological estimate of proteomic age is highly predictive of all major non-cancer causes of death (within a dataset) 11:46 Validating the significance of proteomic signature in populations that are genetically and geographically distinct from the cohort on which the statistical models were trained (UK Biobank) 14:48 How not all model types are equal for estimating biological age and making generalizations from biological data across diverse populations 17:38 How far fewer than 3,000 proteins are necessary to make a prediction of biological age and how a select few are particularly significant 20:04 What is it about the 20 proteins identified by Austin’s team that make them highly predictive of biological age? 23:18 Why infamous studies searching for “fountain of youth” genes have never found any definitive answers 27:24 Why conditions associated with increased age often have high heritability, even though heritability of aging is very low 29:34 Decoding proteomic signatures for age to identify risk of developing age-related conditions 32:29 Translating this research into therapeutic development 36:51 Could protein levels associated with “decelerated” aging be replicated in someone experiencing “accelerated” aging? 39:32 How Austin became involved with the biology of aging and proteomics 42:42 What Austin and his team will be working on next 44:38 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform! Find out more: www.austinargentieri.com Find Austin on Twitter (X)…
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The Genetics Podcast
1 EP 145: Navigating rare disease drug development regulations with Daniel O’Connor 39:12
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39:120:00 Intro to The Genetics Podcast 01:00 Welcome to Daniel 02:04 Defining rare disease in the age of personalized medicine 04:57 Key touchpoints with the Medicines and Healthcare products Regulatory Agency (MHRA) when developing a new medicine 09:27 Improvements over the course of Daniel’s career when it comes to incentivizing and making the path to developing therapeutics for rare diseases easier 12:03 The importance of orphan drug designation and what it means for treatment development 14:28 The unique challenges within clinical trial design for rare diseases, including sample size and ethical considerations such as control arms 17:22 How to quantify the scientific rigor of ultra-rare studies and small population research 18:56 The technologies which have been most impactful during the past 20 years and those which Daniel predicts will be the most impactful going forward 22:14 Rare Therapies Launchpad: Building the infrastructure and policies to ensure patients with ultra-rare mutations are connected with potentially relevant therapies 23:19 Working with the International Rare Disease Consortium and the importance of coordinating on an international level 26:30 How to enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of seeking medical attention 29:28 How a career move from working with the MHRA to The Association of the British Pharmaceutical Industry (ABPI) has impacted Daniel’s perspective 32:17 The changes the UK could make to further improve its position as one of the best places in the world to do research 35:33 Creating greater flexibility within regulatory systems to better enable use of preventive treatments 37:26 The challenges of mitigating the uncertainties of preventive treatments and benefit-risk balance over time 38:39 Considering scientific validity versus cost of therapy when developing new preventative treatments 41:17 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform! Find out more: Find Daniel on LinkedIn…
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The Genetics Podcast
1 EP 144: Research Roundup with Dr. Veera: breakthroughs in developmental disorders, Parkinson's, SLE, and Alzheimer's 56:48
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56:480:00 Introduction 1:40 A recurrent de novo mutation in a noncoding region of a small nucleolar RNA gene that has been identified as one of the most common causes of neurodevelopmental disorders This pathogenic variant escaped notice for years because it was not located in a protein coding region of the genome It now shows potential as a target for various therapeutic developments for children with developmental disorders See the original paper here: De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders 20:30 A new gene, RAB32 , linked to Parkinson’s disease through exome sequencing of families impacted by PD Direct interactions with the LRRK2 gene through its armadillo domain, resulting in a gain of function missense mutation How RAB32 was discovered as a significant mutation in PD research The strong therapeutic implications of RAB32 and LRRK2 See original papers: RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses and Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease 35:30 Gaining insights from rare, monogenic conditions: A monogenic cause of early onset systemic lupus erythematosus (SLE) Making discoveries by following a biological thread, a rare privilege enjoyed by few fields like immunology See original paper here: Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus A related paper from two years ago on SLE and the TLR7 gene: TLR7 gain-of-function genetic variation causes human lupus 49:30 Alzheimer’s disease: Old genes, new insights Redefining research goals to make better sense of old discoveries, in addition to making new discoveries deCODE’s previous work on the homozygosity deficit inference APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer’s Disease Homozygosity for R47H in TREM2 and the Risk of Alzheimer’s Disease 59:00 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!…
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The Genetics Podcast
1 EP 143: Harnessing human data in drug development with Jakob Steinfeldt, Co-Founder and Chief Scientific Officer at Pheiron 36:17
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36:170:00 Intro to The Genetics Podcast 01:00 Welcome to Jakob and background on Pheiron 02:14 What made Jakob decide to start Pheiron, what the company does, and how his scientific background inspired him to found a start-up 5:24 Jakob’s excitement and inspiration around the power and potential of machine learning 07:07 Cardiology and heart failure as an example of the gap between where research needs to be compared to where it is today 10:52 Why creating the GPS for identifying patients at increased risk of disease is a challenge on multiple fronts 12:42 How Pheiron’s approach and specificity is opening up the possibility of identifying highly-relevant patients and running clinical trials at greater pace 17.35 How testing potential treatments in a highly-specific population affects the design of Phase 3 clinical trials 21:19 The types of data required to build Pheiron’s GPS - from population scale insights to deep analysis within subgroups 23:48 Whether there is a shortage of healthcare systems with robust research arms looking to participate in such collaborations 27:30 Working with patients to build a collaborative commitment to data sharing 28:22 Making the decision to start Pheiron rather than continue working in medicine or research 30:38 Core learnings from building a company from the ground up 31:35 What Jakob is currently most focused on and what he hopes to achieve with Phieron in the immediate future 34:40 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform! Find out more: www.pheiron.com Find Jakob on Twitter (X)…
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The Genetics Podcast
1 EP 142: From genome to bedside: How genetics is transforming modern medical practice with Dr. Andrea Gropman 42:45
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42:450:00 Introduction 1:40 Andrea’s background and how she got into the field of genetics, neuroimaging, and metabolic disorders 4:00 Insights into Andrea’s clinical practice, including the diverse families and patients she serves and her approach to clinical decision-making 6:30 How genetics and genomics have changed the diagnostic journey in the last 25 years 10:00 Insurance coverage for genetic testing as a key component of preventive and diagnostic medicine 13:00 The role of genetics and genetic research in shaping medical education and enhancing various medical specialties and subspecialties 16:00 The transformative impact on clinical care by various neuroimaging technologies, such as spectroscopy, MRIs, wearable neuroimaging devices, and more 23:50 The potential of newborn screening programs, particularly for families with a history of disease and for critically ill neonates 29:00 The onset and prevalence of diseases such as Ornithine Transcarbamylase Deficiency (OTC) 34:00 Improvements in the treatment options for genetic-based diseases 38:10 Exciting advancements in Andrea’s field and her insights on the most anticipated and groundbreaking technological innovations 41:20 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform!…
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The Genetics Podcast
1 EP 141: Bringing genomics to the clinic with Lori Orlando, Associate Prof at Duke University 43:24
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43:240:00 Intro to The Genetics Podcast 01:00 Welcome to Lori Orlando 03:00 Lori’s career: From mathematical modelling to genetics and family history 05:11 The study that revealed 20% of the general population is at a higher risk of disease than average and needs preventative care 07:36 The first five diseases that Lori started analysing through informatics 09:56 The emergence of implementation science 11:47 Helping patients understand the implications and limitations of different types of genetic testing 13:11 The biggest challenges for the evolution of genomics and genetic testing 15:28 Emerging tools physicians can share to help patients understand genetic testing and its impacts 18:06 How primary care doctors can use genetic testing results to identify clear treatment pathways for specific conditions 24:33 The evolution of genetic counselling in primary care in the context of monogenic disease 28:34 Conditions where genetics, behaviour, and environment are deeply linked and where behaviour change can act as a preventative measure 35:00 Providing overall assessments to patients, including genetic testing and family history, to see how it changes their healthcare 35:50 How the MeTree platform is helping patients understand family health history 37:41 How to optimise family health history for current healthcare 42:15 Closing remarks Please consider rating and reviewing us on your chosen podcast listening platform! Find out more metreeandyou.com Undiagnosed Diseases Network…
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