Genetics (Audio)

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]