Podcasts about genomic

In this episode of The Dairy Podcast Show, Dr. Hinayah Rojas, from Purdue University, shares valuable insights into the rapidly evolving field of genomics in dairy cattle. Dr. Rojas breaks down the challenges and opportunities presented by longitudinal traits like milk production, discussing how genomic tools are helping to boost sustainability across the industry. Additionally, Dr. Rojas offers advice on balancing motherhood with a demanding professional life. Listen now on all major platforms!"The lactation curve is complex, but genomics allows us to select animals not only for higher milk production but also for better lactation persistence."Meet the guest: Dr. Hinayah Rojas de Oliveira is an Assistant Professor of Genomics and Animal Breeding at Purdue University. She holds a PhD in Animal Sciences, focusing on Genetics and Animal Breeding, from the Federal University of Viçosa in Brazil. Dr. Rojas has completed postdoctoral work at the University of Guelph and Purdue University and previously worked as a Geneticist at Lactanet Canada. Her research aims to develop statistical models that maximize genetic progress while preserving diversity in livestock species.Liked this one? Don't stop now — Here's what we think you'll love!What you'll learn:(00:00) Highlight(01:30) Introduction(02:35) Dr. Rojas's journey(08:52) Genomics in dairy cattle(11:55) Longitudinal traits(14:30) Genomic & efficiency(17:11) Sustainability & genomics(28:35) Final questionsThe Dairy Podcast Show is trusted and supported by innovative companies like:* Adisseo* Lallemand* Priority IAC* Evonik- ICC- AHV- Protekta- Natural Biologics- SmaXtec- Berg + Schmidt- dsm-firmenich

******Support the channel******Patreon: https://www.patreon.com/thedissenterPayPal: paypal.me/thedissenterPayPal Subscription 1 Dollar: https://tinyurl.com/yb3acuuyPayPal Subscription 3 Dollars: https://tinyurl.com/ybn6bg9lPayPal Subscription 5 Dollars: https://tinyurl.com/ycmr9gpzPayPal Subscription 10 Dollars: https://tinyurl.com/y9r3fc9mPayPal Subscription 20 Dollars: https://tinyurl.com/y95uvkao ******Follow me on******Website: https://www.thedissenter.net/The Dissenter Goodreads list: https://shorturl.at/7BMoBFacebook: https://www.facebook.com/thedissenteryt/Twitter: https://x.com/TheDissenterYT This show is sponsored by Enlites, Learning & Development done differently. Check the website here: http://enlites.com/ Dr. Kevin Mitchell is Associate Professor of Genetics and Neuroscience at Trinity College Dublin. He is interested in the development of connectivity in the brain, specifically in how this process is controlled by genes and how mutations in such genes affect the connectivity of neuronal circuits, influence behavior and perception and contribute to disease. His latest book is Free Agents: How Evolution Gave Us Free Will. In this episode, we start by talking about free will. We discuss free will at the molecular level and the different levels of analysis. We discuss top-down causation and process philosophy. We talk about decision-making, why certain possibilities spring to mind and not others, and why it can pay off to behave randomly sometimes. We also discuss whether AI could have free will. We then talk about Dr. Mitchell's debates with Dr. Robert Sapolsky, and how we should reframe the free will debate within science. We discuss the genomic code, and how the genome instantiates a generative model of the organism. Finally, we talk about the science and ethics of human embryo editing, and the trouble with eugenics.--A HUGE THANK YOU TO MY PATRONS/SUPPORTERS: PER HELGE LARSEN, JERRY MULLER, BERNARDO SEIXAS, ADAM KESSEL, MATTHEW WHITINGBIRD, ARNAUD WOLFF, TIM HOLLOSY, HENRIK AHLENIUS, FILIP FORS CONNOLLY, ROBERT WINDHAGER, RUI INACIO, ZOOP, MARCO NEVES, COLIN HOLBROOK, PHIL KAVANAGH, SAMUEL ANDREEFF, FRANCIS FORDE, TIAGO NUNES, FERGAL CUSSEN, HAL HERZOG, NUNO MACHADO, JONATHAN LEIBRANT, JOÃO LINHARES, STANTON T, SAMUEL CORREA, ERIK HAINES, MARK SMITH, JOÃO EIRA, TOM HUMMEL, SARDUS FRANCE, DAVID SLOAN WILSON, YACILA DEZA-ARAUJO, ROMAIN ROCH, DIEGO LONDOÑO CORREA, YANICK PUNTER, CHARLOTTE BLEASE, NICOLE BARBARO, ADAM HUNT, PAWEL OSTASZEWSKI, NELLEKE BAK, GUY MADISON, GARY G HELLMANN, SAIMA AFZAL, ADRIAN JAEGGI, PAULO TOLENTINO, JOÃO BARBOSA, JULIAN PRICE, HEDIN BRØNNER, DOUGLAS FRY, FRANCA BORTOLOTTI, GABRIEL PONS CORTÈS, URSULA LITZCKE, SCOTT, ZACHARY FISH, TIM DUFFY, SUNNY SMITH, JON WISMAN, WILLIAM BUCKNER, PAUL-GEORGE ARNAUD, LUKE GLOWACKI, GEORGIOS THEOPHANOUS, CHRIS WILLIAMSON, PETER WOLOSZYN, DAVID WILLIAMS, DIOGO COSTA, ALEX CHAU, AMAURI MARTÍNEZ, CORALIE CHEVALLIER, BANGALORE ATHEISTS, LARRY D. LEE JR., OLD HERRINGBONE, MICHAEL BAILEY, DAN SPERBER, ROBERT GRESSIS, JEFF MCMAHAN, JAKE ZUEHL, BARNABAS RADICS, MARK CAMPBELL, TOMAS DAUBNER, LUKE NISSEN, KIMBERLY JOHNSON, JESSICA NOWICKI, LINDA BRANDIN, VALENTIN STEINMANN, ALEXANDER HUBBARD, BR, JONAS HERTNER, URSULA GOODENOUGH, DAVID PINSOF, SEAN NELSON, MIKE LAVIGNE, JOS KNECHT, LUCY, MANVIR SINGH, PETRA WEIMANN, CAROLA FEEST, MAURO JÚNIOR, 航 豊川, TONY BARRETT, NIKOLAI VISHNEVSKY, STEVEN GANGESTAD, TED FARRIS, ROBINROSWELL, KEITH RICHARDSON, HUGO B., JAMES, JORDAN MANSFIELD, AND CHARLOTTE ALLEN!A SPECIAL THANKS TO MY PRODUCERS, YZAR WEHBE, JIM FRANK, ŁUKASZ STAFINIAK, TOM VANEGDOM, BERNARD HUGUENEY, CURTIS DIXON, BENEDIKT MUELLER, THOMAS TRUMBLE, KATHRINE AND PATRICK TOBIN, JONCARLO MONTENEGRO, NICK GOLDEN, CHRISTINE GLASS, IGOR NIKIFOROVSKI, AND PER KRAULIS!AND TO MY EXECUTIVE PRODUCERS, MATTHEW LAVENDER, SERGIU CODREANU, ROSEY, AND GREGORY HASTINGS!

How to unlock the power of precision medicine to make sure your patients get the best, personalized treatment plan. Credit available for this activity expires: 7/29/26 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/implementing-comprehensive-genomic-profiling-your-oncology-2025a1000jnt?ecd=bdc_podcast_libsyn_mscpedu

Think butterfly genomics is a simple topic? Think again, but this time think alongside Zac MacDonald and Julian Dupuis. Not only are they answering some of the most interesting contemporary conservation questions, but they're doing so using a very curious butterfly as their model organism. “One of the difficult things with studying these kinds of butterflies….is we don't really understand fitness or adaptive value as well as we do in cougars or in foxes or in dogs or in other vertebrates that we've studied a lot more.” Julian says. “We don't really have these characteristic signals of, what does inbreeding depression look like? We just don't have that kind of information in butterflies.”Listen in to learn about cutting edge genomics from certified self-described “crazy butterfly people” and expand your idea of what is possible in conservation.Zac and Julian's paper “Genomic and ecological divergence support recognition of a new species of endangered Satyrium butterfly (Lepidoptera, Lycaenidae)” is in volume 1234 of Zookeys. It can be found here: https://doi.org/10.3897/zookeys.1234.143893A transcript of this episode can be found here: Zac Macdonald and Julian Dupuis - TranscriptNew Species: Satyrium curiosolusEpisode image credit: MacDonald et. al (2025)Follow Zac on instagram: @wild_about_the_wild_thingsAnother paper by Zac and Julian on the future of butterfly conservation: https://onlinelibrary.wiley.com/doi/10.1111/mec.17657Be sure to follow New Species on Bluesky (@newspeciespodcast.bsky.social) and Instagram (@NewSpeciesPodcast) and like the podcast page on Facebook (www.facebook.com/NewSpeciesPodcast).Music in this podcast is "No More (Instrumental)," by HaTom (https://fanlink.to/HaTom)If you have questions or feedback about this podcast, please e-mail us at NewSpeciesPodcast@gmail.comIf you would like to support this podcast and enjoy bonus episodes, please consider doing so at https://www.patreon.com/NewSpeciesPod

Cheryl Reeves, Senior Editor at The Lancet Oncology, is joined by Dr Jinming Li, from the Department of Colorectal Surgery, Fudan University Shanghai Cancer Centre, Shanghai, China to discuss his international, multicohort, observational study on patterns in genomic mutations among patients with early-onset colorectal cancer.Read the full article:https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(25)00239-6?dgcid=buzzsprout_icw_podcast_July_25_lanoncTell us what you thought about this episodeContinue this conversation on social!Follow us today at...https://thelancet.bsky.social/https://instagram.com/thelancetgrouphttps://facebook.com/thelancetmedicaljournalhttps://linkedIn.com/company/the-lancethttps://youtube.com/thelancettv

After Chris Walkland's dairy market update this week, Ben Eagle is joined by Kevin Ziemba, Global Applied Genetic Consulting Manager at STGenetics (parent company of Cogent Breeding) and Steve West, Senior Consultant with Kite to explore the latest in genetics and genomics in dairy farming. They discuss the financial benefits of breeding for Ecofeed to improve feed efficiency and profitability, as well as how to build a genetic strategy to best fit your business. They also discuss the newly discovered gene responsible for muscle weakness in calves and the impact this could have. Please note: The information provided during this podcast has been prepared for general informational purposes only and does not constitute advice. The information must not be relied upon for any purpose and no representation or warranty is given as to its accuracy, completeness or otherwise. Any reference to other organisations, businesses or products during the podcast are not endorsements or recommendations of Dairy Consulting Ltd or its affiliated companies. The views of the presenter are personal and may not be the views of Dairy Consulting Ltd. The contents of this podcast are the copyright of Dairy Consulting Ltd.

Join The Beyond Terrain Community for free:https://beyond-terrain.circle.so/join?invitation_token=08c95fc3df8ff802b3bd05091df70e5a7bf0f297-2ceb428c-0b15-4d16-be23-81d5a8adb098Links:Part 1: https://www.youtube.com/watch?v=iUr5PW1r1oE&list=PLV0S9i-xQu5WHh2mgQ0aSd0Hm0ecemXm3&ab_channel=BeyondTerrainIn this episode, Dr. Jerneja Tomsic joins us to unravel the myths and misconceptions surrounding the genetic code, RNA, and gene editing.We begin by questioning the very foundation of modern biology—the so-called genetic code—and explore how much of what we believe is built on assumptions, models, and indirect inferences rather than direct observation.The conversation moves into the world of RNA, exposing the exaggerated claims about its role and supposed “superpowers” in diagnostics, vaccines, and cellular control.We then dive into paternity testing, forensic genetics, and heredity, raising serious questions about their reliability, interpretation, and the circular logic often used in these fields.Finally, we tackle the boldest claim of all: gene editing. We discuss GMO foods, to the GMO babies in china, revealing gene editing is more fantasy than science.A powerful and eye-opening episode that invites critical thinking and reclaims clarity in a field clouded by hype and narrative.Keep up with me (socials)https://www.instagram.com/beyond.terrain/https://beyondterrain.com/Our vision at Beyond Terrain is greatly supported by sharing our work!Become a Founding Member in the community!https://beyond-terrain.circle.so/checkout/founding-memberLearn more from and support our esteemed guest, Dr. Tomsichttps://x.com/zianiniSLO

A plan to revive the extinct Moa has sparked debate - and excitement - among experts. US company Colossal Bioscience has partnered with Ngai Tahu in a $50 million project to revive the flightless bird through gene editing and surrogate hatching. Thylacine Integrated Genomic Restoration Research Laboratory head Andrew Pask says bringing the moa back could help fix many of the environmental issues impacting New Zealand. "It's one of those species that we've lost due to humans coming into an environment - but these species were so critically important in maintaining the ecosystems which they came from." LISTEN ABOVESee omnystudio.com/listener for privacy information.

The Importance of BiodiversityDescription:This episode was originally released on October 31, 2022Conservation is often about protecting the species that still wander around our Earth. But what about those that once did but have gone extinct? In this Halloween-inspired episode, we take a look into how one spooky idea has gone from science fiction to science fact, de-extinction style.Dr. Kaylee Byers takes us to the upside-down world of wild animals in Australia. She sits down with Dr. Axel Newton whose research addresses how to resurrect a species that has been extinct for nearly a century. Also joining her is Dr. Carolyn Hogg who uses the latest genomic technology to understand the impacts of reintroducing endangered species into their native habitats. In this wacky tale of resurrection and 'devils' will the spirit of scientific discovery mean incredible changes for the future, or is a line being crossed that we can't come back from?References:1. Lab takes 'giant leap' toward thylacine de-extinction with Colossal genetic engineering technology partnership | The University of Melbourne2. Thylacine Integrated Genomic Restoration Research Lab (TIGRR Lab) | The University of Melbourne3. Thylacine: How we plan to de-extinct the Tasmanian tiger | Colossal Laboratories and Biosciences4. Extinction of thylacine | National Museum Australia5. A year after Australia's wildfires, extinction threatens hundreds of species | Science News6. Rewilding returns lost species to strengthen ecosystems | Science News7. Park Conscious | U.S. Dept. of Agriculture8. Endangered Tasmanian devils insured against future threats | The University of Sydney9. The 9 Steps to De-Extincting Australia's Thylacine | The University of Melbourne10. The Value of Reference Genomes in the Conservation of Threatened Species | Marsupial Genetics and Genomics11. Assessing evolutionary processes over time in a conservation breeding program: a combined approach using molecular data, simulations and pedigree analysis | Biodiversity and Conservation

Matters Microbial #98: Nesting Dolls of Endosymbiosis July 3, 2025 Today, Dr. John McCutcheon of Arizona State University joins the #QualityQuorum to discuss the work he and his research group do to investigate the strategies by which microbes become symbionts of other cells. After all, the mitochondria and chloroplasts of eukaryotic cells, including yours, were once bacteria! Host: Mark O. Martin Guest: John McCutcheon Subscribe: Apple Podcasts, Spotify Become a patron of Matters Microbial! Links for this episode A video about the symbiosis of Hydra virdissima, which captured my heart when I was young.  Look at those symbiotic algae!  Here is an overview of this topic. A video describing the Rhizobium – legume nitrogen fixing symbiosis in all of its glory—by my PhD advisor, the great Dr. Sharon Long.  Here is an overview of this topic.   An appreciation of Paul Buchner's very important book, “Endosymbiosis of Animals with Plant Microorganisms.” A wonderful review by Dr. McCutcheon on how symbioses form. A wonderful essay by Ed Yong about an event that made eukaryotic cells possible:  how bacteria became mitochondria. A story about an anaerobic protist that lost its mitochondria completely. A bacterial symbiont of mitochondria, the “midichlorian.” The recent discovery of a new integrated symbiont that has become an organelle, the nitrosome. The “X-bacteria” and amoebae story. A retrospective on endosymbiosis, and Paramecium based on Tracey Sonneborn's work. An essay on aphids and bacteria. An article on the Moranella/Tremblaya symbiosis. An article on “bacteria inside other bacteria” found in several symbioses, written by Dr.McCutcheon and colleagues. Genomic instability in bacterial endosymbionts. An article on cicadas and bacterial endosymbionts from Dr. McCutcheon and colleagues. An article on mealybugs and bacterial endosymbionts from Dr. McCutcheon and colleagues. Dr. McCutcheon's thoughts on his career path (so worth reading). The Center for Mechanisms of Evolution research institute in which Dr. McCutcheon works. Dr. McCutcheon's faculty website. Dr. McCutcheon's (and his research team's) wonderful research website. Intro music is by Reber Clark Send your questions and comments to mattersmicrobial@gmail.com

UCSF oncologist Dr. Jonathan Chou discusses how genetics and genomics are transforming the diagnosis and treatment of prostate cancer. He explains how inherited and acquired mutations—especially in DNA repair genes like BRCA2—can impact both cancer risk and treatment decisions. Dr. Chou outlines how UCSF researchers use tumor and blood-based biopsies to identify key mutations and genomic features that help tailor care for each patient. Examples include how genomic scores can predict response to radiation and how targeted therapies like PARP inhibitors benefit patients with specific mutations. The talk highlights the growing role of precision medicine in guiding individualized treatment plans based on the unique genetic profile of each patient's cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 40798]

UCSF oncologist Dr. Jonathan Chou discusses how genetics and genomics are transforming the diagnosis and treatment of prostate cancer. He explains how inherited and acquired mutations—especially in DNA repair genes like BRCA2—can impact both cancer risk and treatment decisions. Dr. Chou outlines how UCSF researchers use tumor and blood-based biopsies to identify key mutations and genomic features that help tailor care for each patient. Examples include how genomic scores can predict response to radiation and how targeted therapies like PARP inhibitors benefit patients with specific mutations. The talk highlights the growing role of precision medicine in guiding individualized treatment plans based on the unique genetic profile of each patient's cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 40798]

UCSF oncologist Dr. Jonathan Chou discusses how genetics and genomics are transforming the diagnosis and treatment of prostate cancer. He explains how inherited and acquired mutations—especially in DNA repair genes like BRCA2—can impact both cancer risk and treatment decisions. Dr. Chou outlines how UCSF researchers use tumor and blood-based biopsies to identify key mutations and genomic features that help tailor care for each patient. Examples include how genomic scores can predict response to radiation and how targeted therapies like PARP inhibitors benefit patients with specific mutations. The talk highlights the growing role of precision medicine in guiding individualized treatment plans based on the unique genetic profile of each patient's cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 40798]

UCSF oncologist Dr. Jonathan Chou discusses how genetics and genomics are transforming the diagnosis and treatment of prostate cancer. He explains how inherited and acquired mutations—especially in DNA repair genes like BRCA2—can impact both cancer risk and treatment decisions. Dr. Chou outlines how UCSF researchers use tumor and blood-based biopsies to identify key mutations and genomic features that help tailor care for each patient. Examples include how genomic scores can predict response to radiation and how targeted therapies like PARP inhibitors benefit patients with specific mutations. The talk highlights the growing role of precision medicine in guiding individualized treatment plans based on the unique genetic profile of each patient's cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 40798]

UCSF oncologist Dr. Jonathan Chou discusses how genetics and genomics are transforming the diagnosis and treatment of prostate cancer. He explains how inherited and acquired mutations—especially in DNA repair genes like BRCA2—can impact both cancer risk and treatment decisions. Dr. Chou outlines how UCSF researchers use tumor and blood-based biopsies to identify key mutations and genomic features that help tailor care for each patient. Examples include how genomic scores can predict response to radiation and how targeted therapies like PARP inhibitors benefit patients with specific mutations. The talk highlights the growing role of precision medicine in guiding individualized treatment plans based on the unique genetic profile of each patient's cancer. Series: "Prostate Cancer Patient Conference" [Health and Medicine] [Show ID: 40798]

In this episode, Professor Asim Surani, shares how his extensive research has significantly advanced the understanding of how the mammalian germline is specified, the mechanisms governing epigenetic reprogramming, and the critical conditions that maintain genomic integrity during early development. The discussion, led by Dr. Stefan Dillinger, provides an overview of Surani's journey into biology, the evolution of his research interests, and the pivotal discoveries that have shaped the field of epigenetics. Dr. Surani discusses the groundbreaking experiment he co-conducted in 1984 that led to the discovery of genomic imprinting. Initially a student involved in in vitro fertilization at Cambridge, he became intrigued by the implications of parthenogenesis in mammals. Challenging the prevailing cytoplasmic theory of development, Surani and his collaborators demonstrated that normal mammalian development requires contributions from both parental genomes, leading to the introduction of the concept of genomic imprinting—a term Surani defended to describe the phenomenon that he and his team observed. Surani's research then evolved toward understanding the mechanisms of genomic imprinting, particularly the role of DNA methylation. Throughout the interview, he details specific experiments that elucidated how genes could exhibit imprinted expression depending on the parental lineage, highlighting the importance of epigenetic factors in gene regulation. The revelation that DNA methylation marks were responsible for imprinting solidified the connection between genetic information and epigenetic influence in development. The conversation dives deeper into the mechanisms involved in germline specification and epigenetic reprogramming. Surani explains his transition into studying mammalian germline development and the intricacies of primordial germ cell specification. Working with his team, he utilized single-cell approaches to investigate gene expression profiles specific to germ cells, identifying critical factors like PRDM1 and PRDM14 that repress somatic gene programs while initiating germline-specific pathways. This work underscored the complex interplay of genetic and epigenetic factors that govern the development of germ cells. Another focus of the interview is the comparison of epigenetic resetting between mouse and human germlines. Surani addresses key differences in the timing and mechanisms of epigenetic reprogramming in humans, particularly the involvement of specific factors such as SOX17, which emerged as a crucial player in human germline specification, contrary to his earlier expectations. The discussion also highlights the technical challenges researchers face when studying human embryos due to ethical constraints, driving innovation in model systems such as stem cells to explore germline development.   References Surani MA, Barton SC, Norris ML. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature. 1984 Apr 5-11;308(5959):548-50. doi: 10.1038/308548a0. PMID: 6709062. Surani MA, Barton SC, Norris ML. Nuclear transplantation in the mouse: heritable differences between parental genomes after activation of the embryonic genome. Cell. 1986 Apr 11;45(1):127-36. doi: 10.1016/0092-8674(86)90544-1. PMID: 3955655. Ohinata Y, Payer B, O'Carroll D, Ancelin K, Ono Y, Sano M, Barton SC, Obukhanych T, Nussenzweig M, Tarakhovsky A, Saitou M, Surani MA. Blimp1 is a critical determinant of the germ cell lineage in mice. Nature. 2005 Jul 14;436(7048):207-13. doi: 10.1038/nature03813. Epub 2005 Jun 5. PMID: 15937476. Hajkova P, Ancelin K, Waldmann T, Lacoste N, Lange UC, Cesari F, Lee C, Almouzni G, Schneider R, Surani MA. Chromatin dynamics during epigenetic reprogramming in the mouse germ line. Nature. 2008 Apr 17;452(7189):877-81. doi: 10.1038/nature06714. Epub 2008 Mar 19. PMID: 18354397; PMCID: PMC3847605.   Related Episodes Epigenetic Reprogramming During Mammalian Development (Wolf Reik) Epigenetic and Metabolic Regulation of Early Development (Jan Żylicz) Epigenetic Mechanisms in Genome Regulation and Developmental Programming (James Hackett) Epigenetic Mechanisms of Mammalian Germ Cell Development (Mitinori Saitou) Exploring DNA Methylation and TET Enzymes in Early Development (Petra Hajkova)   Contact Epigenetics Podcast on Mastodon Epigenetics Podcast on Bluesky Dr. Stefan Dillinger on LinkedIn Active Motif on LinkedIn Active Motif on Bluesky Email: podcast@activemotif.com

Today we have Brad Barham discussing the rest of the genomic lots offered in the Dreaming of Triple Crowns at Keightley & Core Sale on June 28th. Listen in to hear what they are offering!

The Embryo Opportunity Sale at Pine Tree Dairy is offering Mini Jersey embryos and Brad Barham tells us about the demand for them. He also outlines some of the genomic lots in the Dreaming of Triple Crowns at Keightley & Core.

In this episode of Speaking of Mol Bio, Dr. Cath Moore of the Australian Genome Research Facility (AGRF) discusses how molecular biology technologies are helping to shape Australia's scientific landscape—from clinical genomics and conservation to bioremediation and agriculture. With over 20 years of experience in both academia and industry, Dr. Moore reflects on the remarkable evolution of genomic tools, from Sanger sequencing to high-resolution spatial multiomics.She unpacks AGRF's mission to democratize access to emerging technologies and highlights its role as an early adopter of platforms that help scientists translate academic research into real-world impact. Topics include non-mass spec proteomics, mine site rehabilitation through soil microbiome analysis, and the role of systems biology in modern science.Dr. Moore also discusses the importance of community education and literacy around genomics, emphasizing how public understanding is key to the safe adoption of emerging technologies like synthetic biology. Finally, she shares career insights and advice for aspiring scientists: stay curious, stay broad, and don't be afraid to pivot when your work no longer brings joy. Subscribe to get future episodes as they drop and if you like what you're hearing we hope you'll share a review or recommend the series to a colleague.  Visit the Invitrogen School of Molecular Biology to access helpful molecular biology resources and educational content, and please share this resource with anyone you know working in molecular biology. For Research Use Only. Not for use in diagnostic procedures.

- HER2-Positive Metastatic Breast Cancer - Biomarker, Genomic & Diagnostic Testing: Grade & Hormone Receptors - Standard Treatment Options, Including Targeted Therapy - How Biomarker Testing Informs Treatment Decisions - New & Emerging Targeted Treatments - Updates on Investigational New Drugs in Clinical Trials - How Research Contributes to Your Treatment Options - What's New in the Prevention & Management of Treatment Side Effects, Symptoms, Discomfort, Neuropathy, Pain & Long-Term Effects - Guidelines to Prepare for Telemedicine/Telehealth Appointments, Including Technology, Prepared List of Questions & Discussion of OpenNotes - Key Questions to Ask Your Health Care Team About Quality-of-Life Concerns - Questions for Our Panel of Experts

- HER2-Positive Metastatic Breast Cancer - Biomarker, Genomic & Diagnostic Testing: Grade & Hormone Receptors - Standard Treatment Options, Including Targeted Therapy - How Biomarker Testing Informs Treatment Decisions - New & Emerging Targeted Treatments - Updates on Investigational New Drugs in Clinical Trials - How Research Contributes to Your Treatment Options - What's New in the Prevention & Management of Treatment Side Effects, Symptoms, Discomfort, Neuropathy, Pain & Long-Term Effects - Guidelines to Prepare for Telemedicine/Telehealth Appointments, Including Technology, Prepared List of Questions & Discussion of OpenNotes - Key Questions to Ask Your Health Care Team About Quality-of-Life Concerns - Questions for Our Panel of Experts

- HER2-Positive Metastatic Breast Cancer - Biomarker, Genomic & Diagnostic Testing: Grade & Hormone Receptors - Standard Treatment Options, Including Targeted Therapy - How Biomarker Testing Informs Treatment Decisions - New & Emerging Targeted Treatments - Updates on Investigational New Drugs in Clinical Trials - How Research Contributes to Your Treatment Options - What's New in the Prevention & Management of Treatment Side Effects, Symptoms, Discomfort, Neuropathy, Pain & Long-Term Effects - Guidelines to Prepare for Telemedicine/Telehealth Appointments, Including Technology, Prepared List of Questions & Discussion of OpenNotes - Key Questions to Ask Your Health Care Team About Quality-of-Life Concerns - Questions for Our Panel of Experts

Robert walks Langston Kerman through the story of Dr. George Church, a very real scientist who co founded the company making bullshit claims of "de extincting" dire wolves. (2 Part Series) Sources: George Church, Colossal W*nker – For Better Science Can Gene Therapy Slow Ageing in Dogs? - Gowing Life Never-ageing Anti-aging to cure COVID-19 – For Better Science The original sins of Leonard Guarente – For Better Science Jeffrey Epstein Hoped to Seed Human Race With His DNA - The New York Times Biologist George Church apologizes for contacts with Jeffreyticl Epstein Genetics Company Wants To Bring Iconic Tasmanian Tiger Back From Extinction - Newsweek Gene editing company hopes to bring dodo ‘back to life’ | Extinct wildlife | The Guardian Jeffrey Epstein-Funded Geneticist Is Building a Dating App That Only a Eugenicist Could Love George Church Explains How DNA Will Be Construction Material of the Future - DER SPIEGEL Geneticist George Church gets funding for lab-grown woolly mammoths Wooly Mammoth De-extinction Scientist Reveals Plan To Create 'Arctic Elephant' - Newsweek Bringing back dinosaurs or making new ones? – DW – 06/10/2015 ‘If you’re not failing, you’re probably not trying as hard as you could be’ — Harvard Gazette CRISPR gene editing on human embryos may be dangerous Here are some actual facts about George Church’s DNA dating company | MIT Technology Review Scientist on the Loose: George Church Strays Into Eugenics—Again | Center for Genetics and Society So...What do we think of Colossal Biosciences? : r/pleistocene The "de-extinction" of the woolly mammoth, a "Colossal" hoax? - Genomic chronicles | Medicine/Science Hiltzik: New frontiers in pseudoscientific baloney - Los Angeles Times Colossal Liar Wolves – For Better Science Meet The Disruptors: How Ben Lamm & Hypergiant Are Shaking Up the Space and AI Industries | by Jason Hartman | Authority Magazine | Medium Millionaire Ben Lamm Warns Against Entrepreneurship - Great Entrepreneurs The Serial Entrepreneur Turned Billionaire: Ben Lamm’s Tech and Science Revolution | Where Business News Meets Thought Leadership How 39-year-old Ben Lamm has started five companies Meet Ben Lamm: The World's First De-extinction Billionaire - Forbes India Oral history interview with George M. Church - Science History Institute Digital Collections Dr. George Church, Founding Father of Genomics | News | W.I. The Church Of George Church The World Has a Data Storage Problem. Is DNA the Answer? - proto.life DNA: The Future of Data Storage?. DNA, with its amazing storage… | by Nithil Krishnaraj | TechTalkers | Medium See omnystudio.com/listener for privacy information.

In this podcast episode, host Ruchika Talwar, MD, is joined by Amin Mazloom, PhD, Senior Vice President of Bioinformatics, Biostatistics & Data Innovation, and Janine LoBello, DO, Senior Clinical Laboratory Medical Director at Exact Sciences to discuss patient-matched tumor-normal (PMTN) sequencing and why it matters for oncologists. Drs. Mazloom and LoBello discuss PMTN sequencing as a gold standard method for calculating tumor mutational burden and personalized therapy selection and share their thoughts on the future of cancer testing.

In this episode of Behind the Genes, we explore the hopes, concerns and complex questions raised by the idea of a lifetime genome — a single genomic record used across a person's life to guide healthcare decisions. Drawing on conversations from Genomics England's Public Standing Group on the lifetime genome, our guests explore what it might mean for individuals, families and society to have their genome stored from birth, and how it could transform healthcare. The discussion reflects on the potential for earlier diagnoses, better treatments and long-term prevention, alongside pressing ethical concerns such as data security, consent, and the impact on family dynamics. Participants share their views and discuss the future role of genomic data in medicine, with insights into how trust, equity and public dialogue must shape this evolving field. Our host for this episode, Dr Harriet Etheredge, is joined by Suzalee Blair-Gordon and Gordon Bedford, two members of the Genomics England's Public Standing Group on the lifetime genome, and Suzannah Kinsella, Senior Associate at Hopkins Van Mil, a social sciences research agency that helped to facilitate this work. Together, they consider the broader societal implications of lifetime genomic data, and how public involvement can help guide policy and practice in the UK and beyond. This conversation is part of our ongoing work through the Generation Study, exploring how genomics can be used responsibly and meaningfully from birth onwards. You can listen to some of our Generation Study episodes by following the links below. What can we learn from the Generation Study? How has design research shaped the Generation Study? What do parents want to know about the Generation Study?   "This isn't just a science project, it's about designing a future where everyone feels included and protected. We need more voices, parents, young people, underrepresented communities, to keep shaping it in the right direction."   You can download the transcript, or read it below. Harriet: Welcome to Behind the Genes. Suzalee: I have come to terms with the thought that life is unpredictable and I have already begun to accept any health condition that comes my way. Believe you me, I have been through the stage of denial, and yes, I have frozen upon hearing health diagnoses in the past but now I believe that I am a bit wiser to accept the things that I cannot change and to prepare to face the symptoms of whatever illness I am to be dealt with or to be dealt to me. If the analysis of my genome can help me to prepare, then yes, I am going to welcome this programme with open arms.  Harriet: My name is Harriet Etheredge, and I am the Ethics Lead on the Newborn Genomes Programme here at Genomic England. On today's episode I'm joined by 3 really special guests, Suzalee Blair and Gordon Bedford, who are members of Genomics England's Public Standing Group on Lifetime Genomes, and Suzannah Kinsella, Senior Associate at Hopkins Van Mil, a social sciences research agency that has helped us to facilitate this work.  Today we'll be discussing the concept of the lifetime genome. What do we mean when we say, ‘lifetime genome'? How can we realise the promise of the lifetime genome to benefit people's healthcare whilst at the same time really appreciating and understanding the very real risks associated? How do we collectively navigate ethical issues emerging at this genomic frontier? If you enjoy today's episode, we would really love your support. Please share, like and give us a 5-star rating wherever you listen to your podcasts. And if there's a guest that you'd love to hear on a future episode of Behind the Genes, please contact us on podcast@genomicsengland.co.uk. Let's get on with the show. I'll start off by asking our guests to please introduce yourselves.  Suzalee, over to you.  Suzalee: Thanks, Harriet. So I am a proud mum of two kids, teacher of computing at one of the best academic trusts in the UK, and I am also a sickler, and for those who don't know what that means, I am living with sickle cell disease.  Harriet: Thank you so much, Suzalee. Gordon, over to you.  Gordon: I'm Gordon Bedford, I'm a pharmacist based in The Midlands. I've worked in hospital and community pharmacy. I have a genetic condition, which I won't disclose on the podcast but that was my sort of position coming into this as I'm not a parent of children, but it was coming in from my perspective as a pharmacist professional and as a member of society as well.  Harriet: Thank you so much, Gordon. And, last but certainly not least, Suzannah.  Suzannah: So, yes, Suzannah Kinsella. I am a social researcher at Hopkins Van Mil, and I had the pleasure of facilitating all of the workshops where we gathered together the Public Standing Group and working on reporting the outcome from our discussions, so delighted to be coming in from South London. Harriet: Thank you so much, everyone, and it's such a pleasure to have you here today. So, many regular listeners to Behind the Genes will now that Genomics England is currently undertaking the Generation Study. I'm not going to speak about it in much detail because the Generation Study has already been the subject of several Behind the Genes podcasts and we'll put some links to these in the show notes for this episode. But briefly, the Generation Study aims to analyse whole genomes of 100,000 newborn babies across England, looking for 250 rare conditions. We have a view to getting these children onto treatments earlier and potentially enhancing their lives.  The Generation Study is a research project because we don't know if the application of this technology will work. And as a research project we can also answer other important questions, such as questions about a lifetime genome. When we invite parents to consent to the Generation Study on behalf of their newborn babies, we ask to store babies' genomic data and linked healthcare data in our trusted research environment.  This helps us to further research into genes and health. But a critical question is ‘what do we do with these data long term?' And one of the potential long-term uses of the data is to revisit it and re-analyse it over a person's lifetime.  We could do this at critical transition points in life, like adolescence, early adulthood or older age, with the aim of using the genomic data to really enhance people's health. But this is a very new concept. There's been little work on it internationally, however I am pleased to say that interest seems to be picking up. In the Generation Study, whilst we are at the present time doing no lifetime genomes work, we are looking to explore the benefits, risks and potential uses of the lifetime genome.  This Public Standing Group on lifetime genomes was our first foray into this area.  So, I'd like to start off by inviting Suzannah to please explain a bit more about what the Public Standing Group is, why it was created and how a group like this helps us to generate early deliberation and insight.  Suzannah: So, the first thing I should talk about is who were these 26 people that formed part of this group, and the first thing to say is that they were a wide range of ages and backgrounds from across England, so some from Newcastle, some from London and everywhere in between. And these 26 people all had one thing in common, which is they had all taken part in a previous Genomics England public dialogue, either the whole genome sequencing for newborn screening which took place in 2021, or in a more recent one in about 2022/23 which was looking at what should Genomics England think about in terms of research access to data that's drawn from the Generation Study. So, the great thing was that everybody had already some previous knowledge around genomics, but the concept of a lifetime genome was completely new. So these 26 people met on 5 occasions over the period of 2024, mostly meeting face to face, and really the task that they were given was to look at the lifetime genome and look at it from every angle; consent, use, information sharing and all sorts of other aspects as well. Harriet: Gordon and Suzalee, you were participants in our Public Standing Group, I'd love to hear from you what your roles in the Standing Group were and what you found most interesting, but also for you which bits were the most challenging. Suzalee, shall we start with you? Suzalee: For me the most interesting bits were being able to learn about one's genome and, through Genomics England and their possible use of pharmacogenetics, could determine the specific medication that could be prescribed for a new health condition instead of expensive and possibly tonnes of adverse side effects trial and error medications. Additionally, as a person living with sickle cell disease, I got the chance to share my story and to give voice to people living with the same condition or similar to myself, and how the potential of the genomics newborn programme could help our future generation. There were some tricky bits, and the most challenging bit was to initially discuss and think about the idea of whether or not a parent might choose to know or not to know the potential of their newborn developing or prone to develop a certain condition based on the data received from the programme. My thought went back to when I gave birth to my first child 16 years ago and I was adamant to know if my child would inherit the sickle cell disease, what type, if it would be the trait. In my mind I knew the result, as my haemoglobin is SC and their dad is normal, but I wanted to be sure of my child's specific trait. But then I asked myself, “What if my child was part of the Newborn Genomes Programme, then the possibility exists that other health conditions could be detected through the deep analysis of my child's genome. Would I really want to know then? What would be the psychological effect or, in some cases, the social impact of what I have to learn?” Harriet: Thank you so much, Suzalee. And I think it's just wonderful to hear about the personal impacts that this kind of work can have and thank you for bringing that to us.  Gordon, I'll hand over to you. I'd be really interested in your thoughts on this. Gordon: So my role in the Public Standing Group was to give my section of society my experiences in life to bring them together with other people, so experiences like Suzalee and the 24 other people that joined us on the study, to bring our opinions together, to bring our wide knowledge and group experiences of life. And it's important to have a wide group, because it forces us to wrestle with differences of opinion. Not everybody thinks like I do.  As a pharmacist, I can see the practical side of genomics, like pharmacogenomics, where we could use a baby's genome to predict how they'll respond to drugs over their lifetime. That's a game-changer for avoiding adverse reactions or ineffective treatments, but not everybody's sold on it. Some in our group worried about privacy, who gets this data, or ethics, like whether it's fair to sequence a baby who can't say yes or no. I get that. I don't have children, but I hear those things clearly. The most interesting bits for me, the pharmacogenomics discussion in meeting two stood out, everyone could see the tangible benefits of tailoring medicines to a person's genome, making treatments more effective, and in Meeting 5 designing our own lifetime genome resource was also fascinating. Ideas like it for public health research showed how far-reaching this could be. Some of the challenging sides of things that I came across, the toughest part was grappling with unknowns in Meeting 4, like how to share genetic info with your family without damaging relationships. Those risks felt real, and it was hard to balance them against the benefits, especially when trust from groups like minority ethnic communities is at stake. Harriet: Thank you so much, Gordon. I think from you and Suzalee it's so fascinating to hear how you were grappling, I think, with some of your personal and professional feelings about this and your deeply-held personal views and bringing those first of all out into the open, which is something that is very brave and we really respect and admire you doing that, and also then understanding that people do hold very different views about these issues. And that's why bring these issues to an engagement forum because it's important for us to hear those views and to really understand how people are considering these really tricky ethical issues. So, Suzalee, I'm wondering from your perspective how do you feel we can really be respectful towards other people's points of view? Suzalee: Yes, Harriet. In spite of the fact that we had different viewpoints on some topics discussed, every member, researcher, presenter and guests were respectful of each other's point of view. We all listened to each other with keen eyes, or sometime squinted eyes, with a hand on the chin which showed that what was being said was being processed or interpreted. All our views were recorded by our researchers for further discussion and analysis, therefore I felt heard, and I believe we all felt heard.  Harriet: Do you have any examples that you can recall from the groups where there were differing points of view and how we navigated those? Gordon: Where we had screening at age 5, but we agreed on an opt-out model, because it could help spot issues early. But some worried - psychological impacts, knowing too much too soon. But we looked at an opt-out model rather than an opt-in model because it's easier to say to somebody, “If you don't want to continue with this, opt out” rather than trying to get everybody opting in at every different age range. So, as we reach the age of 5, 10, 15, 20, whatever, it's easier to get people to opt out if they no longer want to be part of that rather than trying to get them to opt in at each stage throughout their life. Harriet: Suzannah, do you have anything to add there as a facilitator? How did you feel about bringing these different points of view together? Suzannah: Yeah, you asked about where are the tensions, where do people maybe agree a bit less or agree and hold different views, and I think what stands out is particularly…  There was an idea floated by one of the speakers about you could have your DNA data on an NHS app and then, let's say if you're in an emergency, a paramedic could have access to it or others. And that really I think brought out quite a wide range of perspectives of some in the group feeling, “You know what, anyone who has an interest, anyone that can help my health, let them have access to it as and when, completely fine,” and others took a more cautious approach saying, “This is my DNA, this is who I am, this is unique to me, my goodness, if someone, some rogue agent manages to crash the system and get hold if it goodness knows what nightmare scenario it could result in,” and so had a much more keep it locked down, keep it very limited approach to having access to your lifetime genome data and so on. So that was a really interesting example of people going, “Yep, make it free” and others going, “No, just for very specific NHS roles,” which I thought was fascinating. Harriet: Yeah, thank you so much, Suzannah. And I think it's a real tangible challenge that those of us working in this area are trying to grapple with, is finding the middle ground here with all of the challenges that this involves, for instance, our data infrastructure and the locations at which data are held. Advert: The Genomics England Research Summit is fast approaching and registration is now open! Join us for this one day in-person event on Tuesday 17 June 2025. This year's agenda dives into rare condition diagnosis, cancer genomics, pharmacogenomics, therapeutic trials, and the impact of emerging technologies. Hear from leading experts and inspirational speakers as we explore the present and future of genomics and the latest research and technology from the Genomics England research community. Keep an eye on the website, genomicsresearchsummit.co.uk for all the details and to secure your spot. Spaces are limited, so don't miss out. We'll see you at the summit! Harriet: I think this brings us really nicely onto looking at some of the ethical, legal and social issues that we need to think through when we're considering the lifetime genome.  I'm wondering if we can expand on some of these and the importance of addressing them. Gordon, would you like to give us your thoughts? Gordon: Sure, thank you. Our job was to dig into how a baby's genome could be used over the lifetime, think pharmacogenetics for better drugs, early childhood screening for conditions or carrier testing to inform family planning. We saw huge potential for individual health like catching diseases early, but also broader impacts like reducing NHS costs through prevention. Weighing the risks and benefits. The benefits like earlier diagnosis or research breakthroughs grew clearer over time with ratings rising from 4.1 to 4.7 - that's out of, I believe, a figure of 5, but risks like data breaches and family tensions over shared genetics stayed significant. We agreed the benefits could outweigh the risks but only with mitigations like transparent governance and strong security. And what are the global implications moving forward? What we discussed isn't just for the UK, it's feeding into the global conversation about newborns in genomic research. That responsibility made us think hard about equity, access, and how to build public trust. Harriet: Thank you, Gordon, I think there's so much there to unpack. And one point I think in particular that you've mentioned, and this came out really strongly as one of our main findings from these groups, was the way that a lifetime genome and the way that we might deliver that information could really impact family dynamics in ways that we might not have really thought of before or in ways that we really have to unpack further. And, Suzalee, I'd love to hear from you about this, how might diverse family dynamics need to be considered? Suzalee: Harriet, as it relates to diverse family dynamics a burning legal issue, which is then triangulated into being considered an ethical issue as well as a social issue, was the question can siblings of sperm donors be informed of life-threatening genomic discoveries? Whose responsibility is it? Will policies now have to be changed or implemented by donor banks to take into consideration the possibility of families being part of the new genomes programme? Harriet: Yeah, thank you, Suzalee. I think there's so much there that we have to unpack and in the Generation Study we're starting to look at some of those questions, but going forward into potential risks, benefits and uses of the lifetime genome, all of these new technologies around human reproduction are things that we're going to have to consider really, really carefully through an ethical and legal lens. Suzannah, I wondered if you have anything to add to these as major ethical issues that came out in these groups. Suzannah: I think, as you say, people were so fascinated by the idea of this information landing in a family, and where do you stop? Do you stop at your siblings, your direct family, the brothers and sisters of a child?  Do you go to the cousins?  Do you go to the second cousins?  It's this idea of where does family stop. And then people were really interested in thinking about who does the telling, whose job is it? And we had this fascinating conversation – I think it was in Workshop 3 – where this very stark fact was shared, which is the NHS doesn't know who your mother or your father or your siblings are; your NHS records are not linked in that way. And so that presented people with this challenge or concern that “Actually, if I get quite a serious genetic condition diagnosed in my family whose job is it to share that information, what support is there to do that and how far do we go?”  So, I think people were really fascinated and hopeful that Genomics England will really be at the vanguard of saying, “How do we as we move into an era of more genetic data being used in our healthcare, how's that managed and how's it shared?” Harriet: Yeah, thank you so much, Suzannah. So I think that what's coming out through everything that you're all saying is the huge breadth of issues that came up here. And of course we're seeing, very encouragingly, so many nods to the potential benefits, especially around things like pharmacogenomics, but we are seeing some risks.  Gordon, I wondered if you'd like to elaborate a bit further. Gordon: So, something that came up, and it divided the group quite considerably, carrier status divided us. Some saw it as reducing disease prevalence and others feared it could fuel anxiety or stigma amongst the family or other families. It showed how personal these choices are and why families need control over what they learn. Harriet: Yeah, it's a very good point, and carrier status is something that could be a conceivable use of our lifetime genome record. Suzannah? Suzannah: Just building off what Gordon was talking about, I remember there were also discussions around are we getting into a state where this is about eradication of so many different conditions, and actually how does that sit with a society that is more embracing, accommodating and supportive of people with different health needs. So, I think that was quite a big ethical discussion that was had, is, and particularly where we think about what we screen for in the future over time and so forth, people really being conscious that “Actually, where are we going with this? Are we risking demonising certain conditions and saying we don't want them on the planet anymore and what are the consequences of that?” Advert: If you're enjoying what you've heard today and you'd like to hear some more great tales from the genomics coalface, why don't you join us on the Road to Genome podcast, where our host, Helen Bethell, chats to the professionals, experts and patients involved in genomics today. In our new series, Helen talks to a fantastic array of guests including the rapping consultant, clinical geneticist Professor Julian Barwell about Fragile X Syndrome, cancer genomics and the holistic approach to his practice. A genuine mic-drop of an interview. The Road to Genome is available wherever you get your podcasts. Harriet: And I think came to a point in our final meeting where we were asking our participants, so Suzalee and Gordon and everybody else in the room, whether you might consider having a lifetime genome for yourself and what that would look like. We'd love to share your views about that, and Suzalee, I'm wondering if you can share your thoughts on that with us first. Suzalee: Definitely. I would wholeheartedly be interested in the lifetime genome programme if it was offered to me right now. I believe that the pros for me are phenomenal. I have come to terms with the thought that life is unpredictable and I have already begun to accept any health condition that comes my way. Believe you me, I have been through the stage of denial, and yes, I have frozen upon hearing health diagnoses in the past but now I believe that I am a bit wiser to accept the things that I cannot change and to prepare to face the symptoms of whatever illness I am to be dealt with or to be dealt to me. If the analysis of my genome can help me to prepare, then yes, I am going to welcome this programme with open arms. Harriet: Thank you, Suzalee. And, Gordon, how did you feel about it? Gordon: Being part of the group showed me how genomics is both thrilling and daunting.  I'd lean towards ‘yes' for a lifetime genome resource for the chance to detect conditions early, but I get why some people may say ‘no' over the data fears or ethical lines. This isn't just a science project, it's about designing a future where everyone feels included and protected. We need more voices, parents, young people, underrepresented communities, to keep shaping it in the right direction. Laws would have to be enacted regarding the storage, use and availability of genetic data. We haven't yet seen as well, how AI's complete benefits in medicine will develop over time. Harriet: Thank you so much, Gordon and Suzalee, for sharing that. And, Suzannah, I know that at the end of the Public Standing Group we generally asked all of our participants whether they would choose to have a lifetime genome, the same sort of question I've just asked Suzalee and Gordon. I wondered if you could just briefly give us an overall sense of how the Public Standing Group participants felt about that. Suzannah: Yes, so it's interesting to see that actually not everyone said, despite spending a year or almost a year discussing this, not everyone said, “Sign me up,” 6 said, “No” or “Maybe.” And the reasons they gave, this idea, “Well, all this data, could a government sell it off?  What guarantees have we got?”  So that was a reason. Somewhat of a concern also about breaches but also this idea of “What do I really want to know? Do I want to have a lifetime resource that can tell me what's going to happen next in my health?” and some say, “Let me deal with it when the symptoms start coming and that's the way I want to handle it.”  So, yeah, about 20 said, “I'd be really interested,” similar to Suzalee and Gordon, 6 on the fence or firmly, “No thanks.” Harriet: Thank you so much, Suzannah. I think your point about uncertainty there is so relevant and important to us. We see uncertainty across genomics and we're layering that here with uncertainty about futures, we're layering that with uncertainty about health. And I hope that this has served to really illustrate the magnitude of the challenge we're looking at here and I think also why for us as Genomics England this is just something we're exploring. There's so much to unpack, there's so much still to be done. In terms of our next steps for Genomics England, it feels like we could speak about this for a week but I'm going to have to wrap it up here. So, for us what are our next steps?  We hope really that as we publicise the findings of this Public Standing Group and when we start combining some of our work and looking at it in harmonisation with the work that others are doing across the world, we might be better positioned to understand the potential future directions that a lifetime genome could take. That's obviously very, very exciting because we expect to see this area of enquiry expanding significantly over the coming years.  And we're already hearing about a number of other countries who are also doing birth cohort studies like we are who might hope to use similar applications of the lifetime genome going forward. So, there's a real opportunity for us here to collaborate and it's really heart-warming that the voices of our participants in this Public Standing Group can be used to facilitate that level of engagement. For us at the Generation Study, we're already looking at the next iteration of our lifetime genomes work and we're being led by the findings of this Public Standing Group as we move forward, specifically in that we're going to be starting to take some of these emerging themes to the parents of our Generation Study babies to really find out how they would feel about them. Harriet: I'd like to extend my sincere gratitude to all for being my guests today, Suzannah Kinsella, Suzalee Blair and Gordon Bedford. Thank you so much for your time and joining me in this discussion of the lifetime genome. If you'd like to hear more content like this, which I am sure you would, please subscribe to Behind the Genes on your favourite podcast app. Thank you so much for listening. I've been your host, Dr Harriet Etheredge.  This podcast was edited by Bill Griffin at Ventoux Digital and produced by Deanna Barac for Genomics England.

This episode was originally released on September 19, 2023Is the world running out of bananas? Well, no. Not…yet — but nature is flashing a big, yellow, squishy "caution" sign. In this episode, Dr. Kaylee Byers peels away our assumptions about food security by looking at bananas. Venturing Down Under, we connect with Dr. James Dale from Queensland University of Technology – a bona fide banana expert, who tells us exactly why this iconic yellow fruit could one day become a rarity. But, with the help of a clever genomic idea, he and his intrepid team of Aussie researchers and farmers are looking at how to hit "abort" on complete Bananageddon.Special thanks to Mark Smith with Darwin Fruit Farm Party Limited for providing field recordings for this episode.References:Why Don't Banana Candies Taste Like Real Bananas? | Science FridayWhat We Can Learn From the Near-Death of the Banana | TIMEBanana Wars: Power, Production, and History in the Americas | Duke University PressChinese coolies | National Library BoardThe Story of the Cavendish Banana | Tenerife WeeklyNot your mother's banana | BananageddonFungal attacks threaten global food supply, say experts | The GuardianThe banana is dying. The race is on to reinvent it before it's too late | WiredQUT-developed GM Cavendish offers safety net to world banana industry | Queensland University of TechnologyCredit:Journey to Banana Land: By the United Fruit Company (1950) | Institute of Visual TrainingAg Report: Fighting rural farm crime; banana disease; and ag grant award | ABC News

This fascinating episode on health and wellness features Michael Snyder, a Professor in Stanford University School of Medicine's Department of Genetics. Michael is widely considered a leader in the field of functional genomics and proteomics – and is a major participant of the ENCODE project. Trained as a microbiologist, Michael is dedicated to gaining a global perspective on health care. Because many aspects of our medical system are broken, he is focused on refining the fields of genomics and proteomics with cutting-edge research. How is technology changing the way we monitor our bodies? Michael sits down to explain… Join the conversation now to find out: Measurements used to indicate when and if someone is getting sick. How your resting heart rate is connected to your immune system. The benefits of using a smartwatch as a health monitor. How monitoring presymptomatic individuals can be used to identify upcoming diseases. You can learn more about Michael and his work by visiting his laboratory website! Episode also available on Apple Podcasts: apple.co/30PvU9C

When hear the term 'genetic engineering', what do you think of? Does your mind immediately jump to the extreme thoughts of eugenics and creating 'the perfect human'? Or do you think of more socially acceptable genetic modifications to treat medical diseases such as cancer and inflammation? Well regardless of what you facet of genetic modification you think of, genetic engineering in any form is considered controversial by many. So what exactly is genetic engineering, and how is it be using to both treat disease and to alter some of our available choices for the babies we are producing? Dr. Eben Kirksey joins the podcast. Learn more about Eben Kirksey and his multiple books at https://eben-kirksey.space Hosted on Acast. See acast.com/privacy for more information.

This podcast is brought to you by Outcomes Rocket, your exclusive healthcare marketing agency. Learn how to accelerate your growth by going to outcomesrocket.com The key to improving patient outcomes and lowering healthcare costs lies in effectively integrating genomic insights into clinical decision-making.  In this episode, Surya Singh, CEO of InformedDNA, discusses how his company uses technology and genetic information to enhance population health. He shares the recent acquisition of Coriell Life Sciences, a pharmacogenomics company, to expand its proactive healthcare capabilities. With a background as a physician and healthcare strategist, Surya emphasizes the importance of shifting from reactive to preventive care. He also highlights the launch of DNA Impact, a population health platform designed to identify and support at-risk individuals by streamlining the genetic testing process and addressing the underutilization of validated genetic assessments. Tune in and learn how genomic solutions can revolutionize healthcare and improve patient outcomes! Resources:  Connect and follow Surya Singh on LinkedIn. Learn more about InformedDNA on their LinkedIn and website. Discover more about DNA Impact here. Buy Good to Great by Jim Collins here. Grab a copy of Turning the Flywheel by Jim Collins here. Get the book Accelerating Growth by Vern Davenport here. Fast Track Your Business Growth: Outcomes Rocket is a full-service marketing agency focused on helping healthcare organizations like yours maximize your impact and accelerate growth. Learn more at outcomesrocket.com

Featuring an interview with Dr Adrienne G Waks, including the following topics: The Phase III AFT-38 PATINA trial of palbociclib combined with anti-HER2 therapy for hormone receptor (HR)-positive/HER2-positive metastatic breast cancer (mBC) (0:00) Role of immunotherapy in the treatment of breast cancer (8:30) Defining ER-low breast cancer and identifying treatment approaches for this histologic subtype (15:55) Genomic testing approaches for patients with localized breast cancer and identification of candidates for treatment with adjuvant olaparib (19:37) Current role of anthracyclines in the treatment of localized breast cancer (31:17) Available and novel antibody-drug conjugates for the treatment of breast cancer (41:21) Palbociclib with endocrine therapy compared to chemotherapy induction followed by endocrine therapy maintenance for HR-positive, HER2-negative mBC (51:53) CME information and select publications

DSD 6.3 | Big Picture Management Decisions Matter Timeless dairy management decisions, such as voluntary waiting period & days dry, have recently been the topic of interest across the globe. Scrutiny to illuminate the ideal to maximize productive life has left the industry questioning convention.   Michael Overton, DVM at Zoetis worked with co-author Steve Eicker to tease out the answers to these questions from a a massive dataset of 109,000 cows across 60 herds nationwide. This retrospective, observational research project was recently published in the Journal of Dairy Science titled, “Associations between days open and dry period length versus milk production, replacement, and fertility in the subsequent lactation in Holstein dairy cows”. All dairymen should pause to determine the unintended consequences of their management decisions on optimal performance and ultimately the economic success of the herd. Listen in to learn ways to apply concepts from this project to your operation. Topics of discussion 1:33       Introduction of Dr. Overton 2:54       Difference between association vs causation 4:28       Description of data set 4:51       Genomic testing, background 6:31       Advising herds on selection indices DWP$ 10:02     Different measurements collected – carry over impact of days dry and days open 11:50     Figure 4: Impact of previous days open and previous days dry on cumulative milk 14:04     Risk of replacement and impact of mastitis 18:05     How many sins is a dairyman willing to forgive? 19:46    What does your data say for optimal VWP 22:27     Twin events or sex of calf 24:59     Figure 7: Risk of pregnancy   28:46     What do you want Boots on the Ground dairy producers to gain from the project?  Featured Article: Associations between days open and dry period length versus milk production, replacement, and fertility in the subsequent lactation in Holstein dairy cows #2xAg2030; #journalofdairyscience; #openaccess; #MODAIRY; #daysdry; #milk; #previousdaysopen; #VWP; #daysdry; #DWP$; #Zoetis; #dairysciencedigest; #ReaganBluel; 

This week on The Genetics Podcast, Patrick is joined by Dr. John Lepore, physician-scientist and CEO of ProFound Therapeutics. They discuss ProFound Tx's mission to expand the proteome to identify novel drug targets – which resulted in the ProFoundry atlas – and the ways in which John's diverse experiences inform his approach as a leader.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to John02:01 John's background at GSK and his transition to drug discovery05:45 Establishing ProFound Therapeutics to expand the proteome and identify novel drug targets 08:27 Genomic origins of newly-identified proteins and the process of finding them09:49 Developing the ProFoundry atlas and integrating data across assays 15:27 Different approaches to inferring protein links and association to disease17:13 Collaboration with Pfizer to find regulators in the context of obesity18:04 Developing novel antibody-drug conjugates for cancer treatment20:27 Clarifying causality in proteomic data21:59 Approaching novel targets while considering industrial and business factors25:19 John's background as a cardiologist and how that impacts his current work27:26 Tips for biotech companies looking to be noticed by pharma for collaborations30:30 Considerations for investigating new and different therapeutic modalities and techniques33:39 How John consistently reinforces the translational angle as a business leader36:24 Closing remarks and future direction for ProFound TherapeuticsFind out moreProFound Therapeutics (https://www.profoundtx.com/)Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link

Dr. Thomas Chen, Founder, CEO, and CSO of NeOnc Technologies, is working on the challenge of delivering drugs across the blood-brain barrier by using an intranasal delivery approach to target brain cancers. This delivery platform leverages the cranial nerve to transport the drugs directly to the brain, bypassing the blood-brain barrier. Genomic analysis of the long-surviving patients in the phase one trial revealed a common genetic mutation, informing the trial design for the next phase. Thomas explains, "So our platform is what we call intranasal delivery. And with the intranasal delivery, we're not trying to cross the blood-brain barrier. We're trying to cross over it. And how we're doing that is doing the delivery of the drug via what we call the C nerves. Now the cranial nerves are, we have 12 cranial nerves in our brain. These cranial nerves have various functions, but the cranial nerves involved with the nasal brain delivery are the first and the fifth cranial nerves. The first cranial nerve is what we call the olfactory nerve. That's the nerve that's responsible for smell. The fifth cranial nerve is called the trigeminal nerve, which involves facial sensation and allows us to chew."   "So what happens is that when we want to deliver the drug to the brain cancer, we have the patient inhale it. When the patient inhales, it goes through the nose, and through the olfactory nerve, it goes to the brain. Usually, that molecule then absorbs in the spinal brain and then circulates to the target, in this case, brain cancer. Now you know how powerful that cranial nerve is from the standpoint of what it does when you smell something, that scent, that odor gets transported from the olfactory nerve to our brain. And that's basically what we're doing. We're taking something external to the brain, allowing the cranial nerve to absorb and transport it to the brain." #NeOnc #BloodBrainBarrier #BBB #BrainCancer #DrugDelivery neonc.com Download the transcript here

Dr. Thomas Chen, Founder, CEO, and CSO of NeOnc Technologies, is working on the challenge of delivering drugs across the blood-brain barrier by using an intranasal delivery approach to target brain cancers. This delivery platform leverages the cranial nerve to transport the drugs directly to the brain, bypassing the blood-brain barrier. Genomic analysis of the long-surviving patients in the phase one trial revealed a common genetic mutation, informing the trial design for the next phase. Thomas explains, "So our platform is what we call intranasal delivery. And with the intranasal delivery, we're not trying to cross the blood-brain barrier. We're trying to cross over it. And how we're doing that is doing the delivery of the drug via what we call the C nerves. Now the cranial nerves are, we have 12 cranial nerves in our brain. These cranial nerves have various functions, but the cranial nerves involved with the nasal brain delivery are the first and the fifth cranial nerves. The first cranial nerve is what we call the olfactory nerve. That's the nerve that's responsible for smell. The fifth cranial nerve is called the trigeminal nerve, which involves facial sensation and allows us to chew."   "So what happens is that when we want to deliver the drug to the brain cancer, we have the patient inhale it. When the patient inhales, it goes through the nose, and through the olfactory nerve, it goes to the brain. Usually, that molecule then absorbs in the spinal brain and then circulates to the target, in this case, brain cancer. Now you know how powerful that cranial nerve is from the standpoint of what it does when you smell something, that scent, that odor gets transported from the olfactory nerve to our brain. And that's basically what we're doing. We're taking something external to the brain, allowing the cranial nerve to absorb and transport it to the brain." #NeOnc #BloodBrainBarrier #BBB #BrainCancer #DrugDelivery neonc.com Listen to the podcast here

In this episode of the Onc Now Podcast, host Jonathan Sackier is joined by Heather McArthur, Associate Professor in the Department of Medicine at University of Texas, UT Southwestern Medical Center, USA. They discuss recent advancements in breast cancer immunotherapy and the future of personalised care.  Timestamps:    00:00 - Introduction  01:20 - Transformative breakthroughs in immunotherapy  03:51 - Communicating new research to the public  05:48 - Racial disparities in cancer screenings  07:22 - Unmet needs in treating triple-negative breast cancer  11:48 - Genomic profiling and molecular pathways   13:30 - Barriers to personalised treatment plans  15:09 - Designing and conducting large-scale, international trials  19:16 - Optoacoustic imaging in cancer  22:52 - The ‘first' cell and the heterogeneity of breast tumours  25:21 – Heather's three wishes for healthcare 

Thanks to Tim and Mia who suggested one of this week's animals! Further reading: Genomic insights into the evolutionary origin of Myxozoa within Cnidaria A tardigrade, photo taken with an electron microscope because these little guys are incredibly tiny: Show transcript: Welcome to Strange Animals Podcast. I'm your host, Kate Shaw. This week we're going to talk about two microscopic or almost microscopic animals, one suggested by Mia and Tim, the other one I just learned about myself. We'll start with Mia and Tim's suggestion, the water bear, also known as the tardigrade. We've talked about it before but there's always more to learn about an animal. The water bear isn't a bear at all but a tiny eight-legged animal that barely ever grows larger than 1.5 millimeters. Some species are microscopic. There are about 1,300 known species of water bear and they all look pretty similar. It looks for all the world like a plump eight-legged stuffed animal made out of couch upholstery. It uses six of its fat little legs for walking and the hind two to cling to the moss and other plant material where it lives. Each leg has four to eight long hooked claws. It has a tubular mouth that looks a little like a pig's snout. An extremophile is an organism adapted to live in a particular environment that's considered extreme, like undersea volcanic vents or inside rocks deep below the ocean floor. Tardigrades aren't technically extremophiles, but they are incredibly tough. Researchers have found tardigrades in environments such as the gloppy ooze at the bottom of the ocean and the icy peaks of the Himalayas. It can survive massive amounts of radiation, dehydration for up to five years, pressures even more intense than at the bottom of the Mariana Trench, temperatures as low as -450 Fahrenheit, or -270 Celsius, heat up to 300 degrees Fahrenheit, or 150 Celsius, and even outer space. It's survived on Earth for at least half a billion years. Mostly, though, it just lives in moss. Not every tardigrade is able to do everything we just talked about. They're tough, but they're not invulnerable, and different species of tardigrade are good at withstanding different extreme environments. Many species can withstand incredible heat, but only for half an hour or less. Long-term temperature increases, even if only a little warmer than what it's used to, can cause the tardigrade to die. Most species of tardigrade eat plant material or bacteria, but a few eat smaller species of tardigrade. It has no lungs since it just absorbs air directly into its body by gas exchange. It has a teeny brain, teeny eyes, and teeny sensory bristles on its body. Its legs have no joints. Its tubular mouth contains tube-like structures called stylets that are secreted from glands on either side of the mouth. Every time the tardigrade molts its cuticle, or body covering, it loses the stylets too and has to regrow them. In some species, the only time the tardigrade poops is when it molts. The poop is left behind in the molted cuticle. The tardigrade's success is largely due to its ability to suspend its metabolism, during which time the water in its body is replaced with a type of protein that protects its cells from damage. It retracts its legs and rearranges its internal organs so it can curl up into a teeny barrel shape, at which point it's called a tun. It needs a moist environment, and if its environment dries out too much, the water bear will automatically go into this suspended state, called cryptobiosis. Tests in 2007 and 2011 that exposed tardigrades to outer space led to some speculation that tardigrades might actually be from outer space, and that they, or organisms that gave rise to them, might have hitched a ride on a comet or some other heavenly body and ended up on earth. But this isn't actually the case, since genetic studies show that tardigrades fit neatly into what we know of animal development and evolution. In other words,

In this episode, our guests explore the impact of genetic discoveries on inherited retinal dystrophies, in particular retinitis pigmentosa (RP). The discussion highlights a recent study that identified two non-coding genetic variants linked to RP, predominantly in individuals of South Asian and African ancestry. The conversation highlights how advances in whole genome sequencing are uncovering previously hidden causes of genetic disease, improving diagnostic rates, and shaping the future of patient care. It also addresses the challenges faced by individuals from diverse backgrounds in accessing genetic testing, including cultural barriers, awareness gaps, and historical underrepresentation in genomic research. Our host Naimah Callachand is joined by researcher Dr Gavin Arno, Associate Director for Research at Greenwood Genetic Centre in South Carolina, Kate Arkell, Research Development Manager at Retina UK, and Bhavini Makwana, a patient representative diagnosed with retinitis pigmentosa and Founder and Chair of BAME Vision. We also hear from Martin Hills, an individual diagnosed with autosomal dominant retinitis pigmentosa. To access resources mentioned in this episode: Access the Unlock Genetics resource on the Retina UK website Visit the BAME vision website for more information and support Find out more about the groundbreaking discovery of the RNU4-2 genetic variant in the non-coding region which has been linked to neurodevelopmental conditions in our podcast episode   "Discoveries like this lead to better clinical management. We understand better the progression of the disease when we can study this in many individuals from a wide spectrum of ages and different backgrounds. We can provide counselling as Bhavini was talking about. We can provide patients with a better idea of what the future may hold for their eye disease, and potentially, you know, we are all aiming towards being able to develop therapies for particular genes and particular diseases."   You can download the transcript or read it below. Naimah: Welcome to Behind the Genes.   Bhavini: The few common themes that always come out is that people don't really understand what genetic testing and counselling is. They hear the word counselling, and they think it is the therapy that you receive counselling for your mental health or wellbeing. There is already a taboo around the terminology. Then it is lack of understanding and awareness or where to get that information from, and also sometimes in different cultures, if you have been diagnosed with sight loss, you know blindness is one of the worst sensory things that people can be diagnosed with. So, they try and hide it. They try and keep that individual at home because they think they are going to have an outcast in the community, in the wider family, and it would be frowned upon).  Naimah: My name is Naimah Callachand and I am Head of Product Engagement and Growth at Genomics England.  I am also one of the hosts of Behind the Genes. On today's episode I am joined by Gavin Arno, Associate Director for Research at Greenwood Genetic Centre in South Carolina, Kate Arkell, Research Development Manager at Retina UK, and Bhavini Makwana, patient representative.  Today we will be discussing findings from a recently published study in the American Society of Human Genetics Journal which identified two non-coding variants as a cause of retinal dystrophy in people commonly of South Asian and African ancestry. If you enjoy today's episode, we'd love your support. Please like, share, and rate us on wherever you listen to your podcasts.  Okay, so first of all I would like to ask each of the three of you to introduce yourselves. Bhavini, maybe we'll start with you.  Bhavini: Hi, I'm Bhavini Makwana, patient representative, and also Chair of BAME Vision. I have other roles where I volunteer for Retina UK, and I work for Thomas Pocklington Trust.  Naimah: Thanks Bhavini. Gavin.  Gavin: Hi, my name is Gavin Arno, I am Associate Director for Research at the Greenwood Genetic Centre in South Carolina, and I am Honorary Associate Professor at the UCL Institute of Ophthalmology in London.  Naimah: Thanks Gavin. And Kate.   Kate: Hi, I'm Kate Arkell, Research Development Manager at Retina UK.   Naimah: Lovely to have you all today. So, let's get into the conversation then. So Gavin, let's come to you first. First of all, what is retinitis pigmentosa and what does it mean to have an inherited retinal dystrophy?  Gavin: So, retinitis pigmentosa is a disorder that affects the retina at the back of the eye. It is a disease that starts in the rod photoreceptor cells. So, these cells are dysfunctional and then degenerate causing loss of peripheral and night vision initially, and that progresses to include central vision and often patients will go completely blind with this disease. So, retinal dystrophies are diseases that affect the retina. There are over 300 genes known to cause retail dystrophy so far, and these affect different cells at the back of the eye, like retinitis pigmentosa that affects the rods. There are cone rod dystrophies, ones that start in the cone photoreceptors, macular dystrophies that start in the central retina, and other types of retinal dystrophies as well.  Naimah: Thanks Gavin. And Bhavini, just to come next to you. So, you received a diagnosis of retinitis pigmentosa at the age of 17 after a genetic change was found in the RP26 CERKL gene. At this time only ten other families in the UK had been identified with this type of genetic alteration. Would you mind sharing a bit more about your journey to your diagnosis?  Bhavini: Yeah. So, at the age of 17 is when I got officially diagnosed with retinitis pigmentosa, but leading up to that I was experiencing symptoms such as night blindness. So, I struggled really badly to see in the dark, or just in dim lighting, like this time of the year in winter when it gets dark quite easily, all my friends from college could easily walk across the pavement, but I struggled. I was bumping into a lot of things. Like things that I wouldn't really see now that I know my peripheral vision, I was losing that, so like lamp posts or trees or bollards, I would completely miss or bump into them. I was missing steps, and had a really, really bad gaze to the sun. Like, everything was really hazy. That continued and I just put it down to stress of exams. You know, just given that age and where I was at the time of my life. But then it kind of continued. So, I went to the see the optician who then referred me, and after months of testing I got diagnosed with retinitis pigmentosa. Back in the late 90s when I was diagnosed there wasn't really anything about genetic testing, or cures., or treatments. I was basically just told to get on with it, and that was it.   It was only until about 15/16 years later I came across Retina UK, started understanding what retinitis pigmentosa is, and what it means, and then when I was offered genetic testing and counselling at one of my annual Moorfields appointments, they explained to me what it involved, what it could mean, what kind of answers I would get, and I agreed to take part. It was a simple blood test that myself and both my parents took part in.      Naimah: Thanks for sharing that Bhavini. So, I know you were able to receive a diagnosis through whole genome sequencing in the 100,000 Genomes Project after the alteration in the gene was found, and this was found in the coding region of the genome. But in this study that we are talking about in this podcast, we know that the two genetic changes that were found, they were in the non-coding region of the genome. Gavin, could you tell me in simple terms what the difference is between the coding and non-coding region of the genomes and why these findings are significant in this case?   Gavin: Yes, sure. So, the human genome is made up of about 3 billion letters or nucleotides which are the instructions for life essentially. Now, within that human genome there are the instructions for roughly 20,000-25,000 proteins. This is what we call the coding genome. These are the bits of DNA that directly give the instructions to make a protein. Now, we know that that part of the genome is only roughly 2% of the entire genome, and the remaining 98% is called the non-coding genome. Now, we understand that far less well. We have a far poorer understanding of what the function of the non-coding genome is versus the coding genome. So, typically molecular diagnostic testing or genetic testing is focused on the coding genome, and historically that has been the fact. Now with advances in genome technologies like whole genome sequencing and the 100,000 Genomes Project, we are able to start to look at the non-coding genome and tease out the previously poorly understood causes of genetic diseases that may lie within those regions of the genes.   Naimah: Thanks Gavin, I think you have just really highlighted the possibilities available with looking at the non-coding region of the genome.  Kate, coming to you next. I wanted to talk about the importance of uncovering and understanding genetic causes of inherited retinal dystrophies, and how do discoveries like these change the landscape of care for patients with inherited retinal dystrophies?  Kate: So, getting a genetic diagnosis can really help families affected by inherited retinal dystrophy. It helps them and their ophthalmologists to better understand their condition, and in some cases gain some insight into possible prognosis, which helps people feel a lot more in control. It can also potentially inform family planning decisions and even open up options around access to reproductive technologies for example, not only for the individual, but sometimes also for their close relatives. Of course, researchers are making great strides towards therapies, some of which have reached clinical trials. But a lot of these approaches are gene specific, so for people who know their genetic diagnosis, they are more able to recognise research that is most relevant to them and quickly pick out potential opportunities to take part. At the moment it is still the case that around 30% of our community who have a genetic test will not receive a clear result, and that can feel very frustrating. So, the more discoveries like this that are made, the better.   Naimah: Thanks Kate.  So, now we are going to hear a clip from Martin Hills, our Retina UK patient representative who has been diagnosed with autosomal dominant retinitis pigmentosa. Martin has undergone genetic testing and shares more about his experience.  Martin: My name is Martin Hills, and I was officially diagnosed with autosomal dominant retinitis pigmentosa in 2001, and because of that I immediately had to stop driving which made a huge impact both on myself and my family.  My eyesight has slowly deteriorated over the years. It first started with difficulty seeing at night, and also playing some types of sport, which I think probably was in my 20s. My peripheral vision has been lost slowly and now has completely gone. Fortunately, I still have some reasonable central vision left which is a great help. I am registered as severely sight impaired, and I am also a symbol cane user. My father and aunt were both diagnosed with this condition, and my daughter has been relatively recently, as has altogether eight members of our wider family, and that also includes two younger generations. In 2015 I went for genetic counselling and testing and at that time it was for 176 genes known to be associated with retinal dystrophies. I believe that has now gone up to about 300, but at the time they couldn't recognise what my faulty gene was, and that has still been the case to my knowledge to date.   I have also been part of the 100,000 Genome Project along with several others of my wider family, and I am also a participant in the UK Inherited Retinal Dystrophy Consortium RP Genome Project, which has been sponsored by Retina UK. The impact of not having a positive genetic test result is quite interesting and has really been a rollercoaster. I guess it is all about hope, and to start with when I knew I was going to be genetically tested, I think my first reaction was optimism, and I think if you have a positive test result, that is a real hope for the future. I think that is quite exciting particularly as things seem to be progressing so rapidly. But because I didn't get a positive result, the next reaction I had really was disappointment because I felt one step behind people with a positive result. Of course the natural reactions are one of frustration, and then I guess followed by realisation of the situation, and heading towards trying to adjust and making coping strategies for the future.  I still feel that genetic testing for all forms of medical conditions is so important and has a huge future in understanding and then potential treatments for so many medical issues. I guess it might be a bit too late for me, but if I can contribute to finding a restorative treatment for the younger generations of my family, and for that matter other people, then I think that is good enough for me.   Naimah: So, we have just heard from Martin that although he has not been able to have a positive genetic test result, his involvement in various studies may have benefits in helping others find treatment. So, I guess on that point Bhavini, maybe you could comment, or ask you how you felt whenever you were about to get a diagnosis through whole genome sequencing?  Bhavini: Yes. When I got called in almost three and a half years after the testing that took place was a massive, massive relief because not only did I get genetic counselling before the testing period, but I got called in and I spoke to a genetic counsellor who explained what they had been able to find and what kind of RP it was, how it would progress, and just answer so many questions. I am the mother of two daughters and even having two children, I lost a lot of sight after my first daughter, but at that time there wasn't any evidence or there wasn't any … you know, there was nothing I even knew about what questions to ask or anything, so I did go on to have a second child and drastically lost more sight. I had always been told, because the lack of awareness and understanding of RP in my family, and I am one of four children, and I am the only one that has it, so there is no other family history. Now I know it could have skipped generations, but I was always told things like it was karma. I must have done something in my past life. I was told to kind of have these herbs or these remedies to cure my sight loss, you know my RP. I was even desperate enough to kind of …  all these bogues treatments that you find online. You know, anything. I was so desperate to find anything that would help me.   When I received that testing and the counselling, it explained so much about how my daughters may or may not be affected, how they are carriers, and that was explained to me, how it would progress. So many questions and worries that I had for almost a decade and a half, they were answered. And not only for me, for my family, and all those people that told me all these sorts of things that I used to worry about that could have caused my RP. I was able to explain it to them and they understood that it was nothing to do with me being bad in my past life. It was actually you know, there is something scientific about it. So, it kind of gave me lots and lots of answers, and actually I then created a private Facebook page just with my RP26 CERKL genetic that I have been diagnosed with, just to see if there is anybody else out there, because when I was diagnosed, I think at the time I was told there was only myself and nine other families in the UK diagnosed with this particular gene. Now, I haven't been that active on it, but you know there are people across the world who found my post and joined the group, and we share experiences about the age that we were kind of diagnosed, the kind of rate the symptoms have developed. It is so fascinating because we have got such similar experiences.   There is parents on there who are there on behalf of their children, and it is just so nice to see … I know it is RP, but the specific gene and the rate of which we have experienced all the symptoms, it is quite similar. So, it has been quite supportive and helpful and reassuring to my family including my daughters.  Naimah: That's incredible Bhavini and it's really nice that you have created that group and created kind of like a support network for all the other families that have been affected by the same genetic condition as well. Yeah, that's incredible. Gavin, I know the findings in the study show that the genetic changes in this study are more common in people of African and South Asian ancestry. So, so I want to understand why is this an impactful finding in the study?  Gavin: Yes, so Kate mentioned that around 30% of people with inherited retinal dystrophies who have genetic testing don't get a molecular diagnosis and we are working in my research lab and many other research labs to improve that. Now, that figure is very much higher in patients of for example African ancestry in the UK, and this is partly due to the fact that historically and even now genetic studies have been focused on European individuals and taken place in the US, and the UK, and Europe, and wealthy countries across the world. This means that people of African ancestry are poorly represented in genetic studies, not just genetic studies of genetic disease, but population studies as well. So, we have less of an understanding of the genetic variants found in the genomes of individuals of African ancestry. So, that means we solve less of the genetic cases, particularly at Moorfields we published a paper on this several years ago with the diagnostic rates in European patients versus those of African ancestry, and it was very, very much lower. So, we need to do better for those patients, and this study identified a cause of retinitis pigmentosa in 18 families of African ancestry who were recruited to the 100,000 Genomes Project.   This is a fairly large proportion of the patients with RP of African ancestry seen at Moorfields Eye Hospital, and when we contacted collaborators around the world many more families were identified, and I think we ended up publishing around about 40 families who were affected by this particular mutation. So, we can look at that variant, we can look at the DNA sequence around that variant, and we found there is a chunk of DNA around the mutation in the gene that was coinherited by all of those different individuals. So, this is what we call an ancestral haplotype. It's an ancient variant that goes back many, many generations and it has a fairly high carrier frequency in genomes of African ancestry. So, we think this will be a fairly significant cause of retinitis pigmentosa across the continent of Africa. And so, identifying it will enable us to provide a molecular diagnosis for those families. Potentially there will be many more families out there who don't know they have this cause of disease yet. They may be affected but they haven't yet received genetic testing.   But discoveries like this lead to better clinical management. We understand better the progression of the disease when we can study this in many individuals from a wide spectrum of ages and different backgrounds. We can provide counselling as Bhavini was talking about. We can provide patients with a better idea of what the future may hold for their eye disease, and potentially you know we are all aiming towards being able to develop therapies for particular genes and particular diseases. As Kate mentioned many of the gene therapies are gene specific, so if we identify a cause of disease that is predominant like this and affects many, many people, then of course there is more interest from the pharmaceutical industry to develop a therapy for that specific gene.  Naimah: Thanks Gavin. I think that really does showcase how impactful these findings really are. Kate, can I come to you. So, Gavin touched on it there that people with African and Asian ancestry are significantly less likely to get diagnosed, but why is it important to ensure that these groups are represented in the genomic datasets?  Kate: So, we need to ensure that genetic testing and diagnostic accuracy works for everyone, and not just those of European ancestry. So, as Gavin said if the datasets don't reflect the genetic variations seen in African or Asian populations, then the tests based on those data are more likely to give incomplete results for those groups of people. We really need a diverse range of genetic information for researchers to work on. As it is clear from this study's results, populations from African backgrounds for example may have unique genetic mutations linked to retinal dystrophy. So, if those are really underrepresented in datasets based on European populations, that is obviously going to present a problem. Gavin mentioned access to treatment. We need to overcome some of these disparities in healthcare access, and   inclusion of broad spectrum of genetic data is actually a foundation for that.   Naimah: Thanks Kate.  So underrepresented groups are often less likely to know about genetic testing due to a combination of social economic and systemic factors that create barriers to access information. Cultural taboos can also play a significant role in shaping attitudes towards genetic testing, and I think Bhavini you kind of touched on this slightly with some of your experiences. I wonder, did you experience any of these cultural taboos?  Bhavini: Yes, some of them, but I think by the time I was informed about what genetic testing and counselling is I had come across Retina UK and I had already started having that background knowledge, so when that was offered to me, I actually had a basic understanding. But as Chair of BAME Vision I work with a lot of ethnic communities, and when I speak about my own personal experience about receiving genetic testing and counselling, I kind of break it down into my own language, and the few common themes that always come out is people don't really understand what genetic testing and counselling is. They hear the word counselling, and they think it is the therapy that you receive counselling for your mental health or wellbeing.  So, again there is already a taboo around the terminology. Then it is lack of understanding and awareness, or where to get that information from. Also sometimes in different cultures, if you have been diagnosed with sight loss, you know blindness is one of the worst sensory things that people can be diagnosed with, so they try and hide it. They try and keep that individual at home, because they think they are going to have an outcaste in the community and the wider family, and you will be frowned upon, people will talk really bad.   So, it is not really common knowledge, so they don't even talk about it. So, there is a lot of layers to unpick there. That is one of the priority areas in 2025 that we at BAME Vision are going to be working on to try and raise that awareness in different communities about what genetic testing is, what it could mean, how to get genetic testing if it is not offered to you at your own clinic. There is a lot of work I know Retina UK have done, so working with them, and how we can reach different communities to raise that awareness.  Naimah: That's great. You have touched on how important the education piece is. I wonder, do you have any other examples of how healthcare providers and genetic counsellors might better engage communities to ensure that they are receiving the care that they need?  Bhavini: Yeah, absolutely. So, I think having information in different languages is essential, and I don't expect to have lots and lots of leaflets in different languages. Whether it is audio form or whether there is different professionals within that setting that speak different languages that can communicate to those patients, or even their family or friends that could translate. I think language is definitely something. And having representation, so like different people who have accessed this and sharing their story and going out into community groups and sort of sharing those messages, is definitely what has been working for us, and we have been doing that on other topics that we have used.  Naimah: Yes, they all sound like really important ways to try and engage with different communities. You have already mentioned how amazing that Retina UK have been and the support that you have received from them. So, I wonder Kate, if you could tell us a bit more about the support that is available for those with inherited sight loss, and how these resources can support people from underrepresented groups as well.  Kate: So, we have a range of support services at Retina UK most of which involve our fantastic team of volunteers, one of whom is Bhavini, who are all personally affected by inherited retinal dystrophy themselves. So, they are all experts by experience so to speak. The team also does include members of the Asian community as well. So, if somebody makes a call to our helpline, they will be able to speak to somebody who genuinely understands what they are going through, which can be a lifeline for those who are feeling isolated and especially I think as Bhavini mentioned, if they feel unable to talk openly with their own family and certainly within their community. We have a talk and support service that offers ongoing more regular telephone support as well as in-person and online peer support groups where people can make social connections with others in similar situations. I think Bhavini has mentioned that she herself runs our London and Southeast local group.  We also have an information resource called Unlock Genetics. That explains genetics in understandable language and clearly explains how people can access testing and what that will involve. So, we have stories on there from people who have gone through the process and talk about that. So, that is available on our website, and we can provide it in audio format as well.  Naimah: So Gavin, looking to the future, what does this research mean for patients with sight loss and their families? What does this mean in the future?  Gavin: So, I think now that we have access to whole genome sequencing through projects like the 100,000 Genomes Project, we are able to start the process of understanding new causes of disease that are found outside of the coded region.  So, we can now look for non-coding variants that cause disease which was previously not possible because genetic testing was focused on 2% of the genome. As we make discoveries like this these will inform future studies. So, the more we identify this type of variant and are able to functionally test the effect on the gene or the protein, we are able to use that information to lead future tests. What this needs is large population datasets to be able to analyse these sorts of variants at scale. The more genomes we have the better our understanding will be of our population frequencies, and the key thing is here for inherited retinal dystrophies, all of these variants that we are identifying are very, very rare. So, we only find them in a very small number of individuals affected with disease, and an infinitely smaller number of individuals in the unaffected general population. So, the larger that population dataset is that we can study, the better we can understand the rarity of these variants and pick those out from the many, many millions of non-pathogenic or harmless variants that we find in the genomes of all the individuals.  Naimah: Do you think the paper will help lead the way for diagnosis of other conditions in African and South Asian communities?    Gavin: Yes. The better we understand causes like this, and we are now at the point where most of the genes that cause retinal dystrophy have been identified already, so the remaining causes to be identified will be these more difficult to find cases, non-coding variants, structural variants, which we haven't touched on today which are larger rearrangements of the genome. These things are harder to find, harder to interpret, so the more that we find like this, the better our ability will be to interpret those sorts of variants. There are many similar findings coming out of genome studies like 100,000 Genomes Project. For example, there was a significant finding recently published on a non-coding RNU gene which causes a significant proportion of neurological disorders in the 100,000 Genomes Project. You need these studies to be able to drive forward the research in areas like this.   Naimah: Thanks Gavin, and the discovery that you are mentioning is the RNU4-2 gene that was discovered earlier this year. You can hear more about that on our other podcast on our website which is ‘How has groundbreaking genome work discovery impacted thousands far and wide' to learn more about that as well. But yeah, I agree it is another really great example of how impactful these findings can be. Okay, we'll wrap up there. Thank you to our guests Gavin Arno, Kate Arkell, and Bhavini Makwana for joining me today as we discussed the findings from a recent study which has identified genetic changes responsible for retinal dystrophy, and people commonly of South Asian and African ancestry. If you'd like to hear more like this, please subscribe to Behind the Genes on your favourite podcast app. Thank you for listening. I have been your host and producer, Naimah Callachand, and this podcast was edited by Bill Griffin of Ventoux Digital.

About this episode: Since the mapping of the human genome in 2003, scientists have sought data from Indigenous and isolated populations. But often that research doesn't translate into better health care for the groups whose biological specimens informed it. In this episode: all about the Native Biodata Consortium, a research organization that collects, stores, and shares data from indigenous environments and communities. Guest: Joseph Yracheta, Pūrepecha, is a biomedical researcher and the executive director of the Native Biodata Consortium. Host: Dr. Josh Sharfstein is vice dean for public health practice and community engagement at the Johns Hopkins Bloomberg School of Public Health, a faculty member in health policy, a pediatrician, and former secretary of Maryland's Health Department. Show links and related content: Rapid Acceleration of Diagnostics (RADx)—The National Institutes of Health Native Americans Graves Protection and Repatriation Act—National Park Service Tribal Data Repository—Data for Indigenous Innovations, Interventions and Implementations Contact us: Have a question about something you heard? Looking for a transcript? Want to suggest a topic or guest? Contact us via email or visit our website. Follow us: @‌PublicHealthPod on Bluesky @‌JohnsHopkinsSPH on Instagram @‌JohnsHopkinsSPH on Facebook @‌PublicHealthOnCall on YouTube Here's our RSS feed

1/2: #BIOWEAPON. PRC suspect of weaponizing genomic research/technology acquired from America. Craig Singleton, FDD. 1940

2/2: #BIOWEAPON. PRC suspect of weaponizing genomic research/technology acquired from America. Craig Singleton, FDD. 1961

Preview: Colleague Craig Singleton (FDD) on Xi Jinping's Ambition to Harness Genomic Research for Potential PLA Weaponization. More Tonight. 1930

  Three years ago David Mittelman came on Unsupervised Learning to talk about emerging possibilities on the frontiers of genomics, and his new startup at the time, Othram. Since then, Othram's work has been featured widely in the media, including in a Law & Order episode, and the firm has solved thousands of unsolved cases, with nearly 500 public. For over a decade, Mittelman has been at the forefront of private-sector genomics research. He trained at Baylor College of Medicine and was previously faculty at Virginia Tech. Razib and Mittelman discuss the changes that the rapid pace of genomic technology has driven in the field of genetics, from the days a $3 billion dollar draft human genome in the year 2000 to readily available $200 consumer genomes in 2024. One consequence of this change has been genetics' transformation into information science, and the dual necessities of increased data storage and more powerful, incisive data analysis. Genomics made information acquisition and analysis so easy across the research community that it allowed for the pooling of results and discoveries in big databases. This has pulled genetics out of the basic science lab and allowed it to expand into an enterprise with a consumer dimension. Mittelman also discusses the improvements and advances in DNA extraction and analysis techniques that allow companies like his to now glean insights from decades-old samples, with bench sciences operating synergistically with computational biology. Razib and Mittelman talk about how he has helped solve hundreds of cold cases with new technology, in particular, at the intersection between new forensic techniques and both whole-genome sequencing and public genetic databases. They also discuss the future of genetics, and how it might touch our lives through healthcare and other domains, passing from inference to fields like genetic engineering  

BUFFALO, NY - January 22, 2025 – A new #review was #published in Oncotarget's Volume 16 on January 20, 2025, titled “Evolving concepts in HER2-low breast cancer: Genomic insights, definitions, and treatment paradigms." Researchers Whitney L. Hensing, Emily L. Podany, James J. Sears, Shaili Tapiavala, and Andrew A. Davis from the University of Missouri-KC School of Medicine and Washington University in St. Louis School of Medicine explore HER2-low breast cancer, a recently recognized type of breast cancer that is changing the way clinicians should approach treatment. The review explains what makes HER2-low breast cancer different and highlights new treatment options that are helping patients. “Breast cancer, which has been historically classified as HER2-positive versus HER2-negative, is currently facing a paradigm shift in both the definition of HER2 status and in the existing treatment algorithms.” Breast cancer is usually classified into two main types based on the HER2 protein: HER2-positive or HER2-negative. HER2-low breast cancer falls somewhere in between. Thanks to new targeted treatments, such as a drug called trastuzumab deruxtecan, patients with HER2-low breast cancer now have more options and better chances of responding to treatment. The review looks at recent studies on the genetics of HER2-low breast cancer. Researchers found that these tumors are often hormone receptor (HR)-positive, meaning they respond to hormones like estrogen. Some tumors also carry a common genetic change called a PIK3CA mutation, which could affect how well treatments work. However, experts say HER2-low breast cancer is not a completely separate breast cancer type but rather an opportunity for more personalized treatment. “Despite evidence from existing literature that HER2-low breast cancer does not represent a distinct biologic and prognostic subtype, the introduction of HER2-low expression as a therapeutic target has expanded patient eligibility for a potent class of anti-HER2 drugs, HER2-directed ADCs, with potential for significant efficacy.” Despite these advances, diagnosing HER2-low breast cancer can still be difficult. Current testing methods are not always accurate, and different laboratories may get different results. The review calls for better detection methods to make sure patients who can benefit from these new treatments are correctly identified. With cancer treatments becoming more personalized, the review also explains how clinicians can fit HER2-low treatments into existing guidelines to help patients. The success of targeted therapies is changing how breast cancer is treated, especially for patients whose cancer has metastasized. In conclusion, experts believe ongoing research will continue to improve the way HER2-low breast cancer is diagnosed and treated. However, they stress the need for better detection methods and continued exploration of new therapies to help patients get the best possible care. DOI - https://doi.org/10.18632/oncotarget.28680 Correspondence to - Andrew A. Davis - aadavis@wustl.edu About Oncotarget Oncotarget (a primarily oncology-focused, peer-reviewed, open access journal) aims to maximize research impact through insightful peer-review; eliminate borders between specialties by linking different fields of oncology, cancer research and biomedical sciences; and foster application of basic and clinical science. To learn more about Oncotarget, please visit https://www.oncotarget.com and connect with us: Facebook - https://www.facebook.com/Oncotarget/ X - https://twitter.com/oncotarget Instagram - https://www.instagram.com/oncotargetjrnl/ YouTube - https://www.youtube.com/@OncotargetJournal LinkedIn - https://www.linkedin.com/company/oncotarget Pinterest - https://www.pinterest.com/oncotarget/ Reddit - https://www.reddit.com/user/Oncotarget/ Spotify - https://open.spotify.com/show/0gRwT6BqYWJzxzmjPJwtVh MEDIA@IMPACTJOURNALS.COM

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How do Vitamin D and genomic ancestry impact cancer cells? Dr. Moray J. Campbell, a research scientist at Cedars-Sinai Cancer, joins the podcast to explain… Dr. Campbell is a cancer biologist who studies the genomic and epigenomic drivers of hormone-dependent cancers. By utilizing high-dimensional data approaches and bioinformatic analyses, Dr. Campbell is on a mission to uncover the scientific mysteries of cancer. Jump into the conversation now to find out: How Vitamin D and genomic ancestry influences prostate cancer.  How prostate cancer cells bind to patients depending on their genetic makeup. How gene expression in prostate cancer works. Where people get most of their Vitamin D from.  Want to learn more about Dr. Campbell and his research? Click here now! Episode also available on Apple Podcasts: http://apple.co/30PvU9C

A new study reveals human and animal hair in the teeth of the famous ‘man-eater' lions that were killed in 1898, and what we can learn from a rare well-preserved Viking burial site. Plus, on This Day in History, Teddy Roosevelt delivers an hour-long campaign speech in Milwaukee AFTER being shot in the chest. Genomic study identifies human, animal hair in 'man-eater' lions' teeth | ScienceDaily In Denmark, 50 well-preserved Viking Age skeletons have been unearthed, a rare discovery | AP News Teddy Roosevelt survived shooting, assassination attempt in Milwaukee (jsonline.com) Contact the show - coolstuffcommute@gmail.com Learn more about your ad choices. Visit megaphone.fm/adchoices