Dr. Alan Guttmacher is acting director of NHGRI.

Dr. Alan Guttmacher, a pediatrician and medical geneticist who has played leadership roles at the National Human Genome Research Institute for nearly a decade, has been named acting director of NHGRI. He replaces Dr. Francis Collins, who stepped down after 15 years to pursue other professional opportunities.

“Dr. Guttmacher has provided excellent leadership for the institute, as well as participating in many trans-NIH efforts. His service as acting director at NHGRI will ensure a seamless transition,” said NIH director Dr. Elias Zerhouni.

Collins said, “Alan is an exceptional medical geneticist and served most ably as NHGRI’s deputy director for the last 6 years. So, I leave the institute in good hands until a permanent director is selected.”

Since joining NHGRI, Guttmacher has served as the institute’s senior clinical advisor to the director and as director of its Office of Policy, Communications and Education. He currently serves as its deputy director, a position he will continue to hold while carrying out his new duties. NIH is conducting a broad search for a permanent director of NHGRI, but details of the search process remain to be finalized.

The greatest challenge facing NHGRI today, said Guttmacher, is how to prioritize among the many superb ideas and exciting possibilities that exist in genome research. “NHGRI now faces, and, in fact, has helped to create, an abundance of scientific opportunities. Among these are efforts to understand more fully how the genome functions, to follow up on the outpouring of information being generated by genome-wide association studies, and, of course, to apply our growing knowledge of the genome to improve human health. Also, as has always been the case, there are important opportunities—indeed, responsibilities—to explore the ethical, legal and social implications of genome research.”

Before coming to NHGRI, Guttmacher directed the Vermont Regional Genetics Center at the University of Vermont College of Medicine, where he also served as associate professor of pediatrics and medicine.

Shortly after arriving at NHGRI in 1999, he suffered a heart attack that provided him not only with new perspectives on health and life, but also with new insights on what patients go through in dealing with health issues.

“I think my experience as a physician—and, importantly, as a patient—does shape who I am and how I think about NHGRI and its work. I am intensely aware that we are part of the National Institutes of Health. Our mission is not simply to advance knowledge, as desirable as that may be, but to improve health,” he said.

Born in Baltimore in 1949, Guttmacher received an A.B. cum laude in social relations from Harvard in 1972 and an M.D. from Harvard Medical School in 1981. He then completed an internship and residency in pediatrics at Children’s Hospital Boston, and, in 1985, earned a 2-year National Research Service Award from the Public Health as a fellow in medical genetics at Children’s Hospital Boston and Harvard School. His honors include election to the medical honors society, Alpha Omega Alpha, and to the Institute of Medicine. He is a fellow of the American Academy of Pediatrics and the American College of Medical Genetics.