Alan Edward Guttmacher, M.D. (born Baltimore, Maryland, 1949), was appointed Acting Director of the National Human Genome Research Institute

National Human Genome Research Institute

The National Human Genome Research Institute is a division of the National Institutes of Health, located in Bethesda, Maryland.NHGRI began as the National Center for Human Genome Research , which was established in 1989 to carry out the role of the NIH in the International Human Genome Project...

 (NHGRI) in 2008, helping oversee the institute's efforts in advancing genome research

Genome Research

Genome Research is a peer-reviewed scientific journal published by Cold Spring Harbor Laboratory Press. The focus of the journal is on genome-wide studies in any organism, including single gene studies that are placed in a genomic context. This scope includes both experimental and computational...

, exploring its ethical, legal, and social implications, and integrating its benefits into health care

Health care

Health care is the diagnosis, treatment, and prevention of disease, illness, injury, and other physical and mental impairments in humans. Health care is delivered by practitioners in medicine, chiropractic, dentistry, nursing, pharmacy, allied health, and other care providers...

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On December 1, 2009 Dr. Guttmacher became acting director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Institute of Child Health and Human Development

The Eunice Kennedy Shriver National Institute of Child Health and Human Development , created by Congress in 1962, supports and conducts research on topics related to the health of children, adults, families, and populations...

 (NICHD), one of the 27 institutes and centers that comprise the National Institutes of Health.

Education

Dr. Guttmacher received his A.B. degree in 1972 from Harvard College

Harvard College

Harvard College, in Cambridge, Massachusetts, is one of two schools within Harvard University granting undergraduate degrees...

 and his M.D. from Harvard Medical School

Harvard Medical School

Harvard Medical School is the graduate medical school of Harvard University. It is located in the Longwood Medical Area of the Mission Hill neighborhood of Boston, Massachusetts....

 in 1981. From 1982 to 1985, he interned and was a medical resident in pediatrics

Pediatrics

Pediatrics or paediatrics is the branch of medicine that deals with the medical care of infants, children, and adolescents. A medical practitioner who specializes in this area is known as a pediatrician or paediatrician...

 at Children's Hospital

Children's Hospital Boston

Children's Hospital Boston is a 396-licensed bed children's hospital in the Longwood Medical and Academic Area of Boston, Massachusetts.At 300 Longwood Avenue, Children's is adjacent both to its teaching affiliate, Harvard Medical School, and to Dana-Farber Cancer Institute...

 in Boston, MA. In 1985, he earned a two-year National Research Service Award

National Research Service Award

The Ruth L. Kirschstein National Research Service Awards are a family of grants provided by the United States National Institutes of Health for training researchers in the behavioral sciences and health sciences. They are a highly selective and very prestigious source of funding for doctoral and...

 from the U.S. Public Health Service as a fellow in medical genetics

Medical genetics

Medical genetics is the specialty of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from Human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, but medical genetics refers to the...

 at Children's Hospital Boston and Harvard Medical School.

Vermont

In 1987, Dr. Guttmacher became director of the Vermont Regional Genetics Center at the University of Vermont College of Medicine

University of Vermont College of Medicine

The University of Vermont College of Medicine is an American medical school located in Burlington, Vermont and associated with the University of Vermont . Established in 1822, it is the nation's seventh oldest medical school...

 where he launched a series of programs in public health

Public health

Public health is "the science and art of preventing disease, prolonging life and promoting health through the organized efforts and informed choices of society, organizations, public and private, communities and individuals" . It is concerned with threats to health based on population 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

Pediatric intensive care unit

A pediatric intensive care unit , usually abbreviated to PICU , is an area within a hospital specializing in the care of critically ill infants, children, and teenagers....

, and the United States' first statewide effort to involve the general public in discussion of the Human Genome Project

Human Genome Project

The Human Genome Project is an international scientific research project with a primary goal of determining the sequence of chemical base pairs which make up DNA, and of identifying and mapping the approximately 20,000–25,000 genes of the human genome from both a physical and functional...

'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

University of Vermont

The University of Vermont comprises seven undergraduate schools, an honors college, a graduate college, and a college of medicine. The Honors College does not offer its own degrees; students in the Honors College concurrently enroll in one of the university's seven undergraduate colleges or...

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National Human Genome Research Institute

In 1999, Dr. Guttmacher joined the NHGRI as Senior Clinical Advisor to the Director, where he involved health professionals and the public in a discussion about the health and societal implications of the Human Genome Project and gave hundreds of talks to physicians, consumer groups, students, and the public about genetics and its impact on health, health care and society. He also served as acting director of the NHGRI Office of Policy, Planning and Communications.

In 1996 the NHGRI had partnered with the American Medical Association

American Medical Association

The American Medical Association , founded in 1847 and incorporated in 1897, is the largest association of medical doctors and medical students in the United States.-Scope and operations:...

 and the American Nurses Association

American Nurses Association

The American Nurses Association is a professional organization to advance and protect the profession of nursing. It started in 1896 as the Nurses Associated Alumnae and was renamed the American Nurses Association in 1911...

 to establish the National Coalition for Health Professional Education in Genetics (NCHPEG), a non-profit coalition which promotes professional education and access to information about advances in human genetics

Human genetics

Human genetics describes the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics,...

, operating from within the genome institute. Dr. Guttmacher directed the development of NCHPEG into a freestanding entity with 120 member organizations and its own executive director.

In 1999 Dr. Guttmacher co-founded a group called "Genetic Resources On the Web (GROW)" which worked with organizations sponsoring genetics-related web sites to ensure they contain high-quality information. GROW's membership included more than 30 organizations, including health professional groups, patient-support groups, federal agencies, foundations, non-profit agencies, and for-profit companies.

In 2003, Dr. Guttmacher and the NHGRI's then director, Dr. Francis S. Collins, co-edited a series about the application of advances in genomics

Genomics

Genomics is a discipline in genetics concerning the study of the genomes of organisms. The field includes intensive efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping efforts. The field also includes studies of intragenomic phenomena such as heterosis,...

 to medical care for The New England Journal of Medicine, entitled Genomic Medicine.

On August 2, 2008, Dr. Guttmacher assumed the role of Acting Director of NHGRI, while continuing to serve as NHGRI's Deputy Director, a position he has held since 2002]

Other activities

Dr. Guttmacher also oversees the NIH's involvement in the U.S. Surgeon General's Family History Initiative, an effort to encourage all Americans to learn about and use their families' health histories to promote personal health and prevent disease.
He is currently a Fellow of the American Academy of Pediatrics

American Academy of Pediatrics

The American Academy of Pediatrics is the major professional association of pediatricians in the United States. The AAP was founded in 1930 by 35 pediatricians to address pediatric healthcare standards. It currently has 60,000 members in primary care and sub-specialist areas...

, a Fellow of the American College of Medical Genetics

American College of Medical Genetics

The American College of Medical Genetics is an organization composed of biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other health care professionals committed to the practice of medical genetics....

 and a member of the Institute of Medicine

Institute of Medicine

The Institute of Medicine is a not-for-profit, non-governmental American organization founded in 1970, under the congressional charter of the National Academy of Sciences...

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Family

Dr. Guttmacher is married to Brigid Coles Guttmacher, Community Outreach and Palliative Care Counselor of Capital Hospice and Founder of the DC Grief and Loss Network, and lives in Washington, D.C.

Washington, D.C.

Washington, D.C., formally the District of Columbia and commonly referred to as Washington, "the District", or simply D.C., is the capital of the United States. On July 16, 1790, the United States Congress approved the creation of a permanent national capital as permitted by the U.S. Constitution....

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He is the son of Dr. Manfred Guttmacher

Manfred Guttmacher

Manfred S. Guttmacher was a forensic psychiatrist and chief medical officer at the Court Clinic for Baltimore City's Supreme Bench, who authored America's Last King: An Interpretation of the Madness of George III , and numerous other works.Guttmacher was born in 1898 to a family of rabbis...

, famed forensic psychiatrist, medical historian, and author; and of Dr. Carola Blitzman Eisenberg, past Dean of Student Affairs of Harvard Medical School

Harvard Medical School

Harvard Medical School is the graduate medical school of Harvard University. It is located in the Longwood Medical Area of the Mission Hill neighborhood of Boston, Massachusetts....

 and Dean of Student of Massachusetts Institute of Technology

Massachusetts Institute of Technology

The Massachusetts Institute of Technology is a private research university located in Cambridge, Massachusetts. MIT has five schools and one college, containing a total of 32 academic departments, with a strong emphasis on scientific and technological education and research.Founded in 1861 in...

, as well as cofounder of Physicians for Human Rights

Physicians for Human Rights

Physicians for Human Rights was founded in 1986 by a small group of doctors who believed the unique scientific expertise and authority of health professionals could bring human rights violations to light and provide justice for victims...

, which in 1997 shared the Nobel Peace Prize

Nobel Peace Prize

The Nobel Peace Prize is one of the five Nobel Prizes bequeathed by the Swedish industrialist and inventor Alfred Nobel.-Background:According to Nobel's will, the Peace Prize shall be awarded to the person who...

 with Jody Williams

Jody Williams

Jody Williams is an American teacher and aid worker who received the 1997 Nobel Peace Prize jointly with the campaign she worked for, the International Campaign to Ban Landmines...

 for their International Campaign to Ban Landmines

International Campaign to Ban Landmines

The International Campaign to Ban Landmines is a coalition of non-governmental organizations working for a world free of anti-personnel landmines and cluster munitions, where mine and cluster munitions survivors see their rights respected and can lead fulfilling lives.The coalition was formed in...

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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 Genomics 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.