Experts Discuss Personalized Medicine and Gene Discoveries in Disease at Genetics Symposium

By Jeffrey Norris | October 7, 2011

Personalized medicine and new gene discoveries in human disease were a focus of a daylong symposium hosted by the UCSF Institute for Human Genetics on the Mission Bay campus on Oct. 3.

UCSF
Participants in a human genetics symposium honoring the late UCSF medical geneticist Charles Epstein at UCSF Mission Bay on October 3 included, from left, Neil Risch, director of the institute for Human Genetics at UCSF; UCSF stem cell researcher Ophir Klein; Francis Collins, director of the National Institutes of Health (NIH); and UCSF geneticist Lauren Weiss. Klein and Weiss are current recipients of NIH Director's New Innovator Awards.

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.

Epstein trained many leading geneticists, including several of the symposium speakers. Other speakers, such as Francis Collins, MD, PhD, director of the National Institutes of Health (NIH), were long-time friends and associates.

Collins, this year’s Charles J. and Lois B. Epstein Visiting Professor, gave a talk titled “Achieving Charlie’s Vision: The Science is Finally Catching Up with the Clinic.” Collins, who headed the Human Genome Project from 1993 to 2008, said that Epstein in his Down syndrome research pioneered the discovery of genetic and biochemical abnormalities that cause disease symptoms four decades ago, “when there were very few genes mapped to any chromosome.”

“Over the course of 40 years he brought together the clinical aspects of genetics and the research aspects in a way that has profoundly changed our understanding for all time and brought us into an era when clinical genetics, I think, has a remarkable future,” Collins said.

Personalized Medicine Marches Forward
Through the Human Genome Project, researchers completely spelled out the DNA sequence of an entire human genome for the first time. That milestone, achieved in 2003, required more than a decade and nearly 3 billion dollars.

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