Advertise on podcast: Genetics (Video)

Rare disease research is creating new paths for diagnosis, treatment, and broader medical discovery. Gene therapy can repair or replace faulty genes, and work on cystinosis has led to a stem cell platform now being applied to Danon disease, Sanfilippo syndrome C, Friedreich’s ataxia, and Alzheimer’s research. Funding programs support gene therapy, clinical trials, and new platform approaches for rare diseases. CAR-T cell research is also advancing treatment possibilities for pediatric brain tumors, including early results in children with DIPG and diffuse midline glioma. A patient advocate shares her daughter’s diagnostic odyssey and treatment for TUBB4A leukodystrophy. Together, these stories show why rare disease research matters beyond rarity. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41402]

Space healthcare depends on connected health data that can follow people wherever care happens. Peter DeVault, Epic, explains how electronic health record tools built for hospitals, labs, and patients can also support healthcare in space. DeVault describes patient-facing tools like MyChart, interoperability across health systems, structured genomics and pharmacogenomics in the patient record, and Cosmos, Epic’s patient data aggregation platform with about 300 million longitudinal records. He also examines AI capabilities that can generate possible future health scenarios and expand to telemetry and molecular data collected before, during, and after a mission. This work helps explain how records, data sharing, and predictive tools could support astronaut health and resilience and why those capabilities may be necessary for the future of space medicine. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41481]

Azim Surani, Director of Research at the Gurdon Institute and Professor Emeritus at University of Cambridge, received the Kyoto Prize in Basic Sciences, specifically in the field of Life Sciences and Medicine, for his work in demonstrating how male and female mammalian genomes receive distinct imprints during germ cell development. Genomic imprinting introduced a novel concept to Mendelian genetics and is a now fundamental principle in the life sciences. Surani's research has contributed to developmental biology and epigenetics, along with a wide range of life science fields including physiology, regenerative medicine, reproductive medicine, and plant science. Series: "Kyoto Prize Symposium" [Science] [Show ID: 41117]

It is well known that inside nearly every living cell on this planet, there are instructions powering the dynamics of everything in the cell, known as deoxyribonucleic acid (DNA). Enoch Yeung, Associate Professor of Mechanical Engineering at UC, Santa Barbara, explains how DNA is the genetic code that tells cells where to live, how to live, and how to adapt when things get tough. Editing DNA has unlocked new potential in biology, enabled new therapeutics, diagnostics, and modes of treating diseases. Since DNA is double-stranded, it literally maintains a backup copy of itself to proof-read and facilitate stability of code. The double-stranded nature of DNA also means it can sometimes encode two messages in a given length! In short, DNA is amazing. Series: "GRIT Talks" [Science] [Show ID: 41040]

Marisa Korody, Ph.D., leads groundbreaking work at the San Diego Zoo Wildlife Alliance’s Beckman Center for Conservation Research, where scientists use advanced genetic and stem cell technologies to protect endangered species. Korody highlights efforts to save the critically endangered northern white rhino by developing induced pluripotent stem cells that can be transformed into egg and sperm precursors, offering a potential path to revive the species. This research is part of a broader conservation mission that includes global projects in genetics, reintroduction, and community engagement. By combining cutting-edge science with wildlife management, the San Diego Zoo Wildlife Alliance works to preserve biodiversity and ensure the survival of species threatened by habitat loss, poaching, and climate change, demonstrating the critical role of innovation in conservation. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 40451]

The human body is made up of billions of cells. These cells are the basic building blocks of life, and they work together to form tissues, organs, and systems that enable our body to function and carry out various activities. Each cell has its own specific function and role in maintaining the overall health and functionality of the body, but how do these cells know what to do? Researchers at UC San Diego and Hebrew University of Jerusalem share an intercontinental effort working to determine just that. Alon Goren and Itamar Simon discuss some of the work they are doing to learn more about the human body beyond the cellular level. [Health and Medicine] [Science] [Show ID: 40516]

Madeline Oudin, Ph.D., is a scientist and mother on a groundbreaking mission to help her daughter, Margot, who has two de novo mutations in the SCN8A gene, which causes epilepsy. Margot's condition causes frequent seizures and developmental challenges. Determined to make a difference, Madeleine and her team are pioneering a cutting-edge genetic therapy that could one day transform treatment for Margot and others like her. In this heartfelt talk, Madeleine shares how her scientific expertise and personal journey intersect, revealing the highs and lows of developing life-changing treatments. From innovative approaches using Antisense Oligonucleotides (ASOs) to the unexpected success of a ketogenic diet, this story is about resilience, hope, and the power of community. Series: "Autism Tree Project Annual Neuroscience Conference" [Health and Medicine] [Science] [Show ID: 40210]

Almost every child born in the United States undergoes state-mandated newborn screening within the first 48 hours of life. The blood collected from a "heel stick" helps test for 80 different serious but treatable genetic disorders. These disorders can be either genetic (passed down in families) or congenital (present at birth). But... what if we could go further? What if we could test a newborn's entire genetic sequence? Pediatric geneticist Ingrid Holm discusses the risks, benefits, costs and ethics of genomic sequencing in newborns. Series: "Exploring Ethics" [Health and Medicine] [Science] [Show ID: 39266]

We know Homo sapiens started in Africa, but we're uncertain about how they spread. Limited fossils and data have hindered our understanding. I'll discuss popular theories about our origins and how recent genetic data from Khoe-San people in southern Africa sheds light on this. Our research suggests a complex history, with population structures dating back to about 120,000-135,000 years ago. Early populations had connections, or gene flow, for hundreds of thousands of years. These "weakly structured stem" models explain genetic diversity that was once thought to come from other hominin species. Unlike previous ideas of interbreeding with archaic humans, our models predict that fossils from these populations should be genetically and physically similar. This variability in theories stems from not considering different possibilities, highlighting the importance of exploring various models to gain more accurate insights into our deep history. Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Humanities] [Science] [Show ID: 39269]

Are you curious about the future of medical treatments and how they might impact your health? Malcolm Moos, Jr., M.D., Ph.D., shares how cellular therapies are revolutionizing medical treatments. Explore how cells hold the potential to provide new hope for individuals facing various health challenges. Delve into the concept of personalized medicine, discover how regulatory agencies are safeguarding patients' well-being, learn the science behind cell behavior and genetics, and how these processes influence innovative medical treatments and so much more. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 38330]

UC Santa Cruz scientists, along with a consortium of researchers, have released a draft of the first human pangenome—a new, usable reference for genomics that combines the genetic material of 47 individuals from different ancestral backgrounds to allow for a deeper, more accurate understanding of worldwide genomic diversity. Series: "UC Santa Cruz News" [Health and Medicine] [Show ID: 39252]

Elsy Buitrago-Delgado, Ph.D., shares how spatial analysis of RNA distribution during early mouse embryogenesis suggests that the first cell fate choice is made at the 4-cell stage. She also discusses how notch signaling regulates cell fate choices during early human development. Series: "Stem Cell Channel" [Science] [Show ID: 38888]

The Science & Technology Ethics Center (STEC) is proud to present a series of lectures and a panel discussion that explores the intersection of genomics, medical ethics, and patient rights. This thought-provoking session delves into the ethical considerations surrounding genetic testing, data privacy, and informed consent. It examines the challenges and opportunities presented by advancements in genomics and how they impact patient care. The panel will discuss the importance of advocating for patients' rights, ensuring equitable access to genetic information, and fostering a patient-centered approach in genomic medicine. Throughout this presentation, you will grasp a deeper understanding of the ethical complexities in genomics and the critical role of patient advocacy in shaping responsible and inclusive genomic practices. Series: "Exploring Ethics" [Health and Medicine] [Humanities] [Science] [Show ID: 38940]

The human body is made up of billions of cells. These cells are the basic building blocks of life, and they work together to form tissues, organs, and systems that enable our body to function and carry out various activities. Each cell has its own specific function and role in maintaining the overall health and functionality of the body. From the skin to the brain, muscles to blood, and everything in between, these countless cells collaborate harmoniously to keep us alive and well, but how do these cells know what to do? When a cell divides, how does it know that it's exact counterpart should do the same thing as the original. Researchers at the Goren Lab at UC San Diego are working to determine just that. They discuss some of the work they are doing to learn more about the human body beyond the cellular level [Health and Medicine] [Science] [Show ID: 38259]

Anthropogeny, has provided many new discoveries over the past decade, ranging from new fossil finds to ancient DNA data, including from extinct hominins. This CARTA symposium highlights where future efforts should be focused and what type of novel collaborations are most promising to improve our understanding of the human phenomenon. Evan Eichler talks about the discovery and resolution of genetic variation which is critical to understanding disease and evolution. The data suggests that large-scale genome structural variation continues to play a crucial role in the evolution of the human species.Daniel Geschwind discusses human cognition and how human brain evolution is particularly susceptible to disruption of neuropsychiatric disorders such as schizophrenia and autism spectrum disorder (ASD). Series: "CARTA - Center for Academic Research and Training in Anthropogeny" [Humanities] [Science] [Education] [Show ID: 38630]