 Francis CollinsFrancis 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
fifteen year project aimed at mapping and sequencing all of the human DNA by the
year 2005. 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 obtain 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 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, and now the full ramp-up of the sequencing
component is underway.
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 breast cancer, prostate
cancer, 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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