Genetics (Video)

Blood-forming stem cells replenish the blood and immune system, making them important targets for gene therapy and transplantation. Cynthia Dunbar, M.D., explains how genetic barcodes let scientists track individual stem cell clones over time. Long-term studies in nonhuman primates reveal stable contributions from blood stem cells and unexpected persistence among certain natural killer immune cells. Dunbar reviews successes and safety concerns in gene therapy, including leukemias associated with some integrating viral vectors. She compares these approaches with CRISPR gene editing, examining challenges in precise gene insertion, stem cell recovery after transplantation, and age-related clonal hematopoiesis. She also addresses treatment costs, intensive preparation for transplantation, and barriers to patient access. These insights help researchers evaluate new treatments more carefully and work toward safer, more accessible care. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 40858]

Heart repair is moving beyond a single strategy. Catriona Jamieson, M.D., Ph.D., Ehtisham Mahmud, M.D., FACC, FSCAI, Eric Adler, M.D., Karen Christman, Ph.D., and set designer Robert Brill discuss approaches to preventing and repairing heart damage. Mahmud describes a model linking cardiovascular care, training and clinical research. Adler explains how patient skin cells can be turned into beating heart cells to study genetic cardiomyopathies and develop targeted therapies. Christman discusses injectable extracellular matrix materials designed to reduce inflammation, limit scar formation and support repair after a heart attack. Brill connects the science to The Heart, a theatrical work shaped by medicine, organ donation and community. Together, the discussion shows how collaboration across medicine, bioengineering and the arts can expand approaches to heart disease and healing. Series: "Stem Cell Channel" [Health and Medicine] [Science] [Show ID: 41544]

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]