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Human Genome: A Public Forum at UCSC


Francis S. Collins, M.D., Ph.D., Director
National Human Genome Research Institute,
National Institutes of Health,
Bethesda, Maryland

Francis S. Collins, M.D., Ph.D., is a physician-geneticist and the director of the National Human Genome Research Institute, NIH. In that role he oversees a complex multidisciplinary project aimed at mapping and sequencing all of the human DNA, and determining aspects of its function. Many consider this the most important scientific undertaking of our time. The project is currently running ahead of schedule and under budget.

Collins was raised on a small farm in Virginia and home-schooled until the sixth grade. He obtained his undergraduate degree in chemistry at the University of Virginia, and went on to earn a Ph.D. in physical chemistry at Yale University. Recognizing that a revolution was beginning in molecular biology and genetics, he changed fields and enrolled in medical school at the University of North Carolina, where he encountered the field of medical genetics and knew he had found his dream. After a residency and chief residency in internal medicine in Chapel Hill, he returned to Yale for a fellowship in human genetics, where he worked on methods of crossing large stretches of DNA to identify disease genes. He continued to develop these ideas after joining the faculty at the University of Michigan in 1984. This approach, for which he later coined the term positional cloning, has developed into a powerful component of modern molecular genetics, as it allows the identification of disease genes for almost any condition, without knowing ahead of time what the functional abnormality might be.

Together with Lap-Chee Tsui and Jack Riordan of the Hospital for Sick Children in Toronto, Canada, his research team identified the gene for cystic fibrosis using this strategy in 1989. That was followed by his group's identification of the neurofibromatosis gene in 1990, and a successful collaborative effort to identify the gene for Huntington's Disease in 1993. That same year, Collins accepted an invitation to become the second director of the National Center for Human Genome Research, following in the footsteps of James Watson. In that role, Collins has overseen the successful completion of several of the Genome Project's goals. In June of 2000, the completion of a "working draft" of the human genome sequence was announced, giving scientists all over the world free and unrestricted access to the vast majority of the instruction book for human biology.

In addition, Collins founded a new NIH intramural research program in genome research, which has now grown to become one of the premier research units in human genetics in the country. His own research laboratory continues to be vigorously active, exploring the molecular genetics of adult-onset diabetes and other disorders. His accomplishments have been recognized by election to the Institute of Medicine and the National Academy of Sciences, and numerous national and international awards.



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