Gene Therapies and Rare Disease - Medicine Informing Novel Discoveries (MIND)
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]
30 May 2026
From Electronic Health Records to Space Medicine: Building the Future of Space Healthcare
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]
6 Apr 2026
Germline Epigenetic Imprints Regulate Mammalian Development with Azim Surani 2025 Kyoto Prize Laureate in Basic Sciences
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]
Who has been a guest on Genetics (Video)
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Enoch Yeung
Dr Marisa Korody
Madeleine Oudin
Ingrid Holm
Brenna Henn
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