University of California faculty present the latest findings in genetic research and discoveries.
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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…
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…
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…
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…
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…
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…
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…
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…
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…
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…
