Neil Risch, MD
Personalized medicine advances arising from genetic discoveries were the primary focus of wide-ranging presentations at the UCSF Institute for Human Genetics 2012 Symposium on Nov. 5.
Speakers described clinical research that has resulted in the identification of gene mutations that often drive deadly breast cancers in black populations; explained how rare mutations responsible for devastating developmental defects in infants can now be discovered in studies of just a handful of individuals from affected families; offered a preview of results expected to emerge from studies of genes and environment in hundreds of thousands of patients through a Kaiser Permanente-UCSF project; and described technical advances that continue to increase scientists' ability to identify links between DNA and disease.
All the speakers "are at the cutting edge of applying genomics and informatics to precision medicine," said the institute's director Neil Risch, MD
, referring to an emerging trend in medicine in which treatment is tailored to the patient through a more precise diagnosis of disease.
At UCSF — a crucible of biotechnology and home to Nobel laureates who identified a role for the mutation of normal genes in cancer — major new initiatives are underway in clinical genetics and bioinformatics, Risch said.
The symposium led off with geneticist Eddy Rubin, MD, PhD, whose presentation demonstrated that genetic studies are being applied to human problems that extend even beyond the realm of medicine.
Rubin - a scientist who oversaw the sequencing and analysis of 13 percent of the human genome as part of the original Human Genome Project - has taken his research from studying abnormalities in DNA "enhancers" that may contribute to disease susceptibility or birth defects, to cutting global greenhouse gas emissions by manipulating gut microbes in sheep.
Early in his career, Rubin completed a medical genetics fellowship under the late Charles Epstein, MD, a founding director of the UCSF Institute for Human Genetics and a driving force behind medical genetics becoming an accredited medical specialty. Rubin was featured at the symposium as the named 2012 Charles J. and Lois B. Epstein Visiting Professor at UCSF.
Rubin, director of the Department of Energy's Joint Genome Institute and director of the Genome Sciences Division at Lawrence Berkeley National Laboratory, is a pioneer in exploring DNA beyond genes, which until recently was a poorly understood realm that may nonetheless prove to be key to understanding fundamental aspects of biology and disease.
Researchers were for decades focused on DNA that encodes proteins - the genes. But the sequencing and analysis of the genome has revealed that genes account for less than 2 percent of the DNA on the 46 human chromosomes. Within the universe of DNA, the stuff beyond the genes is comparable to the poorly understood dark matter of the cosmos.
Read more at UCSF.edu