NIH 1998 Almanac/The Organization/NHGRI/
National Human Genome Research Institute: Biographical Sketch of NHGRI Director
Francis S. Collins, M.D., Ph.D.
Dr. Collins was appointed NHGRI director in April 1993. He was formerly a Howard Hughes
Medical Institute investigator and professor in the departments of internal medicine and
human genetics at the University of Michigan School of Medicine in Ann Arbor. He was also
director of the NHGRI-supported human genome center at Michigan.
He pioneered the development of a powerful new gene-finding method known as
"positional cloning," which utilizes the inheritance pattern of the disease
within families to pinpoint the location of the gene. Positional cloning has been used to
isolate genes even when no information about the gene's function or biochemistry is known.
He is perhaps best known for using positional cloning techniques to isolate the genes for
cystic fibrosis, neurofibromatosis type 1, Huntington's disease, and several others.
He is also chief of the NHGRI Laboratory of Gene Transfer. He pioneered the development
of a powerful gene-finding method known as "positional cloning," which utilizes
the inheritance pattern of a disease within families to pinpoint the location of the
responsible gene on a chromosome. Positional cloning has been used to isolate dozens of
disease genes, and forms the basic strategy for implementing the tools of the Human Genome
Project.
Born in Staunton, Virginia, in 1950, Dr. Collins received his bachelor of science
degree with highest honors from the University of Virginia. He received both his M.S. and
Ph.D. degrees in physical chemistry from Yale University and an M.D. degree from the
University of North Carolina School of Medicine. He completed his internship and residency
in internal medicine at the North Carolina Memorial Hospital. From 1981 to 1984, he was a
fellow in human genetics and pediatrics at Yale. He joined Michigan in 1984, becoming
professor in 1991. He became an HHMI assistant investigator in 1987 and full investigator
in 1991. He is a diplomate of the American Board of Internal Medicine, the American Board
of Medical Genetics, and the American College of Medical Genetics.
He was elected to the IOM in 1991 and the NAS in 1993. He is also a member of the board
of directors of the American Society of Human Genetics, the American Federation for
Clinical Research, the American Society for Clinical Investigation, and the Association of
American Physicians.
Among Dr. Collins' awards and honors, he has received the Gairdner Foundation
International Award, the Young Investigator Award of the American Federation for Clinical
Research, the Doris Tulcin Award for Cystic Fibrosis Research, the University of
Michigan’s Distinguished Faculty Achievement Award, the National Medical Research
Award, and the University of Pittsburgh Dickson Prize. He holds honorary degrees from
Emory University and Yale University.
Directors of NHGRI
