Alan Edward Guttmacher

Alan Edward Guttmacher (born 1949) is an American physician who was the director of the National Institute of Child Health (NICHD), one of the 27 institutes and centers that comprise the National Institutes of Health (NIH). In that capacity, he oversaw the institute’s activities as the focal point at the NIH for research in pediatric health and development, maternal health, reproductive health, intellectual and developmental disabilities, and rehabilitation medicine, among other areas.

A pediatrician and medical geneticist, Guttmacher came to NIH in 1999 to work at the National Human Genome Research Institute, where he served in a number of roles, including deputy director and acting director, thus overseeing that institute’s efforts to advance genome research, integrate that research into health care, and explore the ethical, legal, and social implications of human genomics. Among Guttmacher’s areas of expertise is the development of new approaches for translating genomics into better ways of diagnosing, treating, and preventing disease. A major research interest has been the disease, hereditary hemorrhagic telangiectasia.

Education Guttmacher received his A.B. degree in 1972 from Harvard College and his M.D. from Harvard Medical School in 1981. From 1982 to 1985, he interned and was a medical resident in pediatrics at Children's Hospital in Boston, Massachusetts. In 1985, he earned a two-year National Research Service Award from the U.S. Public Health Service as a fellow in medical genetics at Children's Hospital Boston and Harvard Medical School.

Vermont In 1987, Guttmacher became director of the Vermont Regional Genetics Center at the University of Vermont College of Medicine where he launched a series of programs in public health genetics, as well as directing the Vermont Cancer Center's Familial Cancer Program, the Vermont Newborn Screening Program, Vermont's only pediatric intensive care unit and the United States' first statewide effort to involve the general public in discussion of the Human Genome Project's ethical, legal, and social implications, supported by the NIH. He also maintained a busy practice in clinical genetics, conducted research, and was a tenured associate professor of pediatrics and medicine at the University of Vermont.

He is the son of Dr. Manfred Guttmacher, forensic psychiatrist, medical historian, and author; and of Dr. Carola Blitzman Eisenberg, past dean of Student Affairs of Harvard Medical School and dean of students of Massachusetts Institute of Technology, as well as cofounder of Physicians for Human Rights, which in 1997 shared the Nobel Peace Prize with Jody Williams for their International Campaign to Ban Landmines.

Publications

Shovlin CL, Guttmacher AE, Buscarini E, Faughan ME, Hyland RH, Westermann CJJ, Kjeldsen AD, Plauchu H. Diagnostic Criteria for hereditary hemorrhagic telangiectasia (Rendu–Osler–Weber syndrome). Amer J Med Genetics, 91:66-67. 2000. Guttmacher AE. A piece of my mind: twenty lessons from the heart of medicine. JAMA, 284:1486-1487. 2000. Guttmacher AE, Collins FS. Genetics resources on the web (GROW). Genetics in Medicine, 2:296-299. 2000. Guttmacher AE. Human genetics on the web. Annu Rev Genom Hum Genet, 2:213-233. 2001. Collins FS, Guttmacher AE. Genetics moves into the medical mainstream. JAMA, 286: 2322-2324. 2001. Guttmacher AE, Jenkins J, Uhlmann W R. Genomic medicine: who will practice it? A call to open arms. Amer J Med Genetics, 106:216-222. 2001. Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE. A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Hum Mutat, 19:573-574. 2002. Guttmacher AE, Collins FS. Genomic Medicine - A Primer. New Eng J Med, 347:1512-1521. 2002. Collins FC, Green ED, Guttmacher AE, Guyer MS. A vision for the future of genomics research. Nature, 422:835-847. 2003. Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, Lux A, McKinnon C, Marchuk D, Guttmacher A. Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and Alk 1 mutations. J Med Genet, 40:1-6. 2003. Guttmacher A.E., Collins F.S. Welcome to the genomic era. New Eng J Med, 349:996-8. 2003. Guttmacher A.E, Collins F.S., Carmona R.H. The Family History: More Important Than Ever. New Eng J Med, 351:2333-2336. 2004. Guttmacher A.E, Collins, F.S. Realizing the promise of genomics for biomedical research. JAMA, 294(11):1399-402. 2005. Guttmacher, A.E., Porteous, M.E., McInerney, J.D. Educating health care professionals about genetics and genomics. Nat Rev Genet, 2007. Guttmacher A.E, Ullman W.R., Key Internet Genetics Resources for the Clinician. JAMA, 299(11):1356-1358. 2008. Guttmacher A.E, Collins, F.S., Feero, W. G., The Genome Gets Personal - Almost. JAMA, 299(11):1351-1352. 2008.

Books Guttmacher, A.E., Collins, F.S., Drazen, J.M., eds. Genomic Medicine: Articles from the New England Journal of Medicine. Johns Hopkins University Press, Baltimore, Md. 2004. Guttmacher, A.E. "Breaking the news:" Talking with parents about their child's birth defect or genetic condition. Nursing Care in the Genomic Era. Jenkins, J.F., Lea, D.H. Jones and Bartlett Publishers, pp. 167–173. 2005. Guttmacher, A.E, Marchuk, D.A., Pyeritz, R.E. Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome). Emory and Rimoin's Principles and practice of Medical Genetics. Churchill Livingstone Elsevier, Fifth Edition, pp. 1200–1213. 2007.