About Francis Collins
Francis S. Collins, M.D., Ph.D., is physician-geneticist noted for his landmark discoveries of disease genes and his visionary leadership of the Human Genome Project.
Raised on a small farm in Virginia's Shenandoah Valley, Collins was home-schooled until the sixth grade. Throughout most of his high school and college years, the aspiring chemist had little interest in what he then considered the "messy" field of biology. He earned a B.S. in chemistry at the University of Virginia in 1970 and a Ph.D. in physical chemistry at Yale University in 1974. While at Yale, however, a course in biochemistry sparked his interest in the molecules that hold the blueprint for life: DNA and RNA. Collins recognized that a revolution was on the horizon in molecular biology and genetics. He changed fields and enrolled in medical school at the University of North Carolina, where he earned an M.D. in 1977.
From 1978 to 1981, Collins served a residency and chief residency in internal medicine at North Carolina Memorial Hospital in Chapel Hill. He then returned to Yale, where he was named a Fellow in Human Genetics at the medical school from 1981 to 1984. During that time, he developed innovative methods of crossing large stretches of DNA to identify disease genes.
After joining the University of Michigan in 1984 in a position that would eventually lead to a Professorship of Internal Medicine and Human Genetics, Collins heightened his reputation as a relentless gene hunter. That gene-hunting approach, which he named "positional cloning," has developed into a powerful component of modern molecular genetics.
In contrast to previous methods for finding genes, positional cloning enabled scientists to identify disease genes without knowing in advance what the functional abnormality underlying the disease might be. Collins' team, together with collaborators, applied the new approach in 1989 in their successful quest for the long-sought gene responsible for cystic fibrosis. Other major discoveries soon followed, including isolation of the genes for Huntington's disease, neurofibromatosis, multiple endocrine neoplasia type 1, and the M4 type of adult acute leukemia.
As head of NHGRI, Collins oversaw the HGP, the multidisciplinary, multi-institutional, international effort to map and sequence the 3 billion letters in the human DNA instruction book. Many consider this project to have been the most significant scientific undertaking of our time. The ultimate goal is to improve human health.
With Collins at the helm, the HGP attained historic milestones, while consistently running ahead of schedule and under budget. A working draft of the human genome sequence was announced in June 2000, and an initial analysis was published in February 2001. HGP scientists finished the sequence in April 2003, coinciding with the 50th anniversary of Watson and Crick's seminal publication describing the double helix structure of DNA.