『#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine』のカバーアート

#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine

#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine

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 To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2025, and making predictions for 2026. The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2025” paper. Joining me for this discussion are two leaders in genomics: Drs. Sarah Tishkoff and Eric Green. In this reflective conversation, Kira Dineen, Dr. Sarah Tishkoff, and Dr. Eric Green discuss the significant developments in genetics and genomics over the past year, including the recent American Society of Human Genetics (ASHG) conference and NIH grant cuts. Top 2025 Papers With Genomic Medicine Advancements Gene Therapy CRISPR base editing delivered repeatedly by lipid nanoparticles is effective and safeUtility of a high-activity variant in gene therapy for hemophilia B Promising phase 2 trial of CRISPR-based therapy for hereditary angioedemaOral pre-mRNA modifiers improve outcomes in presymptomatic spinal muscular atrophy Sequencing Long-range genome sequencing enhances rare disease variant detectionLong-read genome sequencing identifies diagnostic variants Exome sequencing in critical illness is useful in adults as well as children Other Utility of pharmacogenomics in chemotherapy for GI cancers Polygenic risk score disclosure reduces adverse cardiovascular events Preimplantation genetic testing reduces risk of mtDNA diseases The Guests: Sarah Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the Perelman School of Medicine and the School of Arts and Sciences. She is also the Director of the Penn Center for Global Genomics & Health Equity in the Perelman School of Medicine. Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans. Her research combines field work, laboratory research, and computational methods to examine African population history, the genetic basis of anthropometric, cardiovascular, metabolic, and immune related traits, and how humans have adapted to diverse environments and diets. She plays an active role as an advocate for the inclusion of global populations in human genetics and genomics research. Dr. Tishkoff is a member of the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences. She is a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, the ASHG Curt Stern Award, the Wilbur Cross medal from Yale, the Vanderbilt Prize in biomedical sciences and a Penn Integrates Knowledge (PIK) endowed chair. She is President of the American Society of Human Genetics, is on the Scientific Advisory Board for the Packard Fellowships in Science and Engineering and is on the editorial boards at Cell and PLOS Genetics. Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025. He was the third NHGRI director, having been appointed by then-NIH director Dr. Francis Collins in 2009. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Throughout his career, Dr. Green has authored and co-authored over 390 scientific publications. As NHGRI director, Dr. Green led the Institute's research programs and other initiatives. Under his guidance, the Institute has completed two major cycles of strategic planning to ensure that its research investments in genomics effectively advance human health. The first effort yielded the highly cited 2011 NHGRI strategic vision, “Charting a course for genomic medicine from base pairs to bedside” (Nature 470:204-213, 2011); the second yielded the 2020 paper ”Strategic vision for improving human health at The Forefront of Genomics” (Nature 586:683-692, 2020). With the rapidly expanding scope of genomics research, Dr. Green has also led NHGRI’s close coordination with other components of NIH, agencies and organizations. Dr. Green has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. These efforts include multiple NIH Common Fund Programs — such as the Undiagnosed Diseases Network, Human Heredity and Health in Africa (H3Africa), and the Human Microbiome Project — the Smithsonian-NHGRI exhibition Genome: Unlocking Life's Code, several trans-NIH data science initiatives, the NIH Genomic Data Sharing Policy and the NIH All of Us Research Program. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin ...
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