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Francis S. Collins, M.D., Ph.D., is the director of the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH). He shepherded the Human Genome Project (HGP)to its completion in 2003, a complex multidisciplinary scientific enterprise directed at mapping and sequencing all of the human DNA, and determining aspects of its function. A working draft of the human genome sequence was announced in June of 2000, an initial analysis was published in February of 2001, and the sequence was completed in April 2003. From the outset, the project ran ahead of schedule and under budget, and all the data is now available to the scientific community without restrictions on access or use.
Dr. Collins received a B.S. from the University of Virginia, a Ph.D. in Physical Chemistry from Yale University, and an M.D. from the University of North Carolina. Following a fellowship in Human Genetics at Yale, he joined the faculty at the University of Michigan, where he remained until moving to NIH in 1993. His research led to the identification of genes responsible for cystic fibrosis, neurofibromatosis and Huntington's disease. He is a member of the Institute of Medicine and the National Academy of Sciences.
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Publications Related to the Human Genome Project
In Peer-Reviewed Scientific Journals
Hudson KL, Rothenberg KH, Andrews LB, Kahn MJE, Collins FS: Genetic discrimination and health insurance: An urgent need for reform. Science 1995; 270:391-393.
Rothenberg, K, Fuller B, Rothstein M, Duster T, Kahn MJE, Cunningham R, Fine B, Hudson K, King MC, Murphy P, Swergold G, Collins FS. Genetic information and the workplace: legislative approaches and policy challenges. Science 1997; 275:1755-1757.
Collins FS, Guyer MS, Chakravarti A. Variations on a theme: cataloging human DNA sequence variation. Science 1997; 278:1580-1581.
Collins FS, Patrinos A, Jordan E, Chakravarti A, Gesteland R, Walters LR. New goals for the U.S. Human Genome Project: 1998-2003. Science 1998; 282:682-689.
Collins FS, Brooks LD, Chakravarti A: A DNA polymorphism discovery resource for research on human genetic variation. Genome Research 1998; 8:1229-1231.
Fuller BP, Ellis Kahn MJ, Barr PA, Biesecker L, Crowley E, Garber J, Mansoura MK, Murphy P, Murray J, Phillips J, Rothenberg K, Rothstein M, Stopfer J, Swergold G, Weber B, Collins FS, Hudson KL. Privacy in genetics research. Science 1999; 285:1359-1361.
Strausberg RL, Feingold EA, Klausner RD, Collins FS. The mammalian gene collection. Science 1999; 286:455-457.
International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome. Nature 2001; 409:860-921
In Non Peer-Reviewed Journals
Collins FS. Shattuck Lecture - Medical and societal consequences of the Human Genome Project. NEJM 1999; 341:28-37.
Collins FS. The Human Genome Project: tool of atheistic reductionism or embodiment of the Christian mandate to heal? Science & Christian Belief 1999;11:99-111.
Collins FS, Jegalian KG. Deciphering the code of life. Scientific American 1999; 281:86-91.
Collins FS, McKusick VA. Implications of the human genome project for medical science. JAMA 2001; 285:540-544.
Collins FS. Contemplating the end of the beginning. Genome Research 2001; 11:64-643
Collins FS, Weiss L, Hudson K. Heredity and humanity: Have no fear. Genes aren't everything. New Republic 2001; June 25:27-29.
Collins, FS, Guttmacher AE. Genetics moves into the medical mainstream. JAMA 2001; 286:2322-2326.
Book
Gelehrter TD, Collins FS, Ginsburg D: Principles of Medical Genetics. Williams and Wilkins, Baltimore, 2nd edition, 1998.