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Francis S. Collins, M.D., Ph.D. Director National Human Genome Research Institute Senior Investigator Genome Technology Branch Selected Publications Books by Researchers at NHGRI

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 led the successful effort to complete Human Genome Project (HGP), 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 a high-quality, reference 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 has led to the identification of genes responsible for cystic fibrosis, neurofibromatosis, Huntington's disease and Hutchison-Gilford progeria syndrome. 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

Wolfsberg TG, Wetterstrand KA, Guyer MS, Collins FS, Baxevanis AD. A user's gude to the human genome. Supplement to Nature Genetics, 2002; 32:2-79.

Guttmacher AG, Collins FS. Genomic Medicine - A Primer. New England Journal of Medicine, 2002; 19:1512-1520.

Mouse Genome Sequencing Consortium. Initial sequencing and comparative analysis of the mouse genome. Nature, 2002; 420:520-562.

Mohlke KL, Erdos MR, Scott LJ, Fingerlin TE, Jackson AU, Silander K, Hollstein P, Boehnke M, Collins FS. High-throughput screening for evidence of association by using mass spectrometry genotyping on DNA pools. Proceedings of the National Academy of Sciences USA, 2002; 99:16928-16933.

Mammalian Gene Collection (MGC) Program Team. Generation and initial analysis of more than 15,000 full-length and mouse cDNA sequences. Proceedings of the National Academy of Sciences USA, 2002; 99:16899-16903.

In Non Peer-Reviewed Journals

Collins FS. Shattuck Lecture - Medical and societal consequences of the Human Genome Project. New England Journal of Medicine, 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.

Collins FS. Foreword. Pharmacogenomics: social, ethical and clinical dimensions. Edited by Mark A. Rothstein. Published by John Wiley & Sons Ltd. 2003; ix-x.

Collins FS. Genomics: the coming revolution in medicine. Global Agenda, Magazine of the World Economic Forum Annual Meeting 2003; 152-154.

Grady, PA, Collins FS. Guest Editorial: Genetics and Nursing Science - Realizing the Potential. Nursing Research, March/April 2003; 52:69.

Insel TR, Collins FS. Commemorations: Psychiatry in the Genomics Era. American Journal of Psychiatry, 2003; 160/4:616-620.

Collins FS, Morgan M, Patrinos A. Viewpoint: The Human Genome Project: Lessons from Large-Scale Biology. Science, 2003; 300:286-290.

Collins FS, Green ES, Guttmacher AE, Guyer MS. A vision for the future of genomics research. Nature, 2003; 422:835-847.

Jenkins J, Collins FS. Are you genetically literate? American Journal of Nursing, 2003; 103:13

Collins, FS. Faith and the human genome. 2002 ASA Annual meeting plenary address. Perspectives on Science and Christian Faith, 2003; 55:142-153.

Collins, FS. Genome Research: The Next Generation. Cold Spring Harbor Symposia on Quantitative Biology, The Genome of Homo sapiens, 2003, Vol 68 [in press]

Guttmacher, AE, Collins FS. Welcome to the genomic era. Editorial: New England Journal of Medicine, 2003; 349:996-998.

Books

Gelehrter TD, Collins FS, Ginsburg D: Principles of Medical Genetics. Williams and Wilkins, Baltimore, 2nd edition, 1998.

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Last Updated: June 2004