Francis S. Collins, along with J. Craig Venter, received the 2001 Biotechnology Heritage Award. In 1993 Collins became director of the National Center for Human Genome Research at the National Institute of Health (NIH), which in 1997 became the National Human Genome Research Institute (NHGRI). Collins is also chief of genetic and molecular biology at NIH.
With his position at NHGRI, Collins assumed leadership of the Human Genome Project (HGP), a complex multidisciplinary scientific enterprise directed at mapping and sequencing the entire set of human DNA and determining aspects of its function. The HGP is arguably the most significant scientific undertaking of our time, with the ultimate goal of improving human health. In June 2000 NHGRI, led by Collins and Celera Genomics, headed by Venter, published a working draft of the sequence of the human genome, marking a milestone for biology, biochemistry, biotechnology, and the pharmaceutical sciences.
After completing his undergraduate studies at the University of Virginia, Collins earned a Ph.D. in physical chemistry from Yale University in 1974 and an M.D. from the University of North Carolina in 1977. Following residencies in internal medicine at North Carolina Memorial Hospital, Collins completed a fellowship in human genetics at Yale’s medical school from 1981 to 1984, developing an innovative technique for gene identification he later called positional cloning. The technique revolutionized gene hunting because it allowed the identification of disease genes for almost any genetic condition, without knowing ahead of time what the functional abnormality might be.
Collins joined the faculty at the University of Michigan in 1984, eventually obtaining a professorship in internal medicine and human genetics, and he continued to use and develop positional cloning. In 1989 he and collaborators sucessfully found the long-sought gene responsible for cystic fibrosis. Other major discoveries followed, including isolation of the genes for Huntington’s disease, neurofibromatosis, multiple endocrine neoplasia type 1, and the M4 type of adult acute leukemia and Hutchison-Gilford progeria syndrome. Collins moved to NIH in 1993. He is a member of the Institute of Medicine and the National Academy of Sciences. His own research laboratory at NIH remains vigorous, exploring the molecular genetics of breast cancer, prostate cancer, adult-onset diabetes, and other disorders.
