Experts Discuss Personalized Medicine and Gene Discoveries at UCSF

Personalized medicine and new gene discoveries in human disease were a focus of a daylong symposium hosted by the UCSF Institute for Human Genetics. The now-annual symposium was convened to honor the late Charles J. Epstein, MD, a pioneer in the study and treatment of Down syndrome and other genetic diseases. Epstein’s advocacy led to the establishment of medical genetics as a field of specialized medicine. He died in February as a result of pancreatic cancer.

Jennifer Puck, MD, from the UCSF Clinical and Translational Science Institute, described research leading to newborn screening for severe combined immunodeficiency (SCID), also known as bubble boy disease. Puck developed a screening method in 2005 that now has been adapted to large-scale screening by state laboratories. It uses the same sample – dried blood spotted onto filter paper – already used for other newborn screening tests. Keep reading