In 1993 NHGRI created an in-house component to carry out a second part of its mission: to develop and use genome technologies to understand and treat inherited disease.
Recognizing its growth and leadership in genetics research, the Secretary of the Department of Health and Human Services elevated the center to an NIH institute in early 1997.
NHGRI is organized into three main divisions: the Office of the Director, which provides guidance to scientific programs and oversees the general operation of the Institute; the Division of Extramural Research, which awards funds to researchers carrying out the goals of the Human Genome Project; and the Division of Intramural Research, which is home to the institute’s in-house genetics research laboratories.
Research direction and policies and final approval of NHGRI grants come from the 15-member National Advisory Council for Human Genome Research, which meets three times a year, usually in Bethesda. Members include representatives from health and science disciplines, public health, social sciences, and the general public. Portions of Council meetings are open to the public.
October 1, 1988--The Office for Human Genome Research was created within the NIH Office of the Director. Also, NIH and DOE signed a memorandum of understanding outlining plans for cooperation on genome research.
February 29-March 1, 1988--NIH Director James Wyngaarden assembled scientists, administrators, and science policy experts in Reston, Va., to lay out an NIH plan for the Human Genome Project.
January 3-4, 1989--The program advisory committee on the human genome held its first meeting in Bethesda, Md.
October 1, 1989--NHGRI was establish to carry out the NIH’s component of the U.S. Human Genome Project.
April 1990--The 5-year plan with specific goals for the project was published.
May 8, 1990--The National Advisory Council for Human Genome Research was established.
July 1, 1990--The genome research review committee was created so NHGRI could conduct appropriate peer review of human genome grant applications.
October 1, 1990--The U.S. Human Genome Project officially began.
January 22, 1991--The National Advisory Council for Human Genome Research met for the first time in Bethesda, Md.
April 10, 1992--James Watson resigned as first director of NHGRI. Michael Gottesman was appointed acting NHGRI director.
February 1993--The NHGRI Division of Intramural Research was established.
April 4, 1993--Francis S. Collins was appointed NHGRI director.
October 1, 1993--U.S. Human Genome Project revised its 5-year goals through September 1998.
September 30, 1994--The genetic mapping goal was achieved 1 year ahead of schedule.
November 15, 1995--NHGRI celebrates its fifth anniversary. J.D. Watson Lecture was established.
April 1995--Task Force on Genetic Testing established as a subgroup of the NIH-DOE ELSI Working Group.
April 11, 1996--Human DNA sequencing begins with pilot studies at six U.S. universties.
April 24, 1996--An international team completes DNA sequence of first eukaryotic genome, Saccharomyces cerevisiae, or common brewer’s yeast.
September 1996--Center for Inherited Disease Research, a project cofunded by eight ICDs to study the genetic components of complex disorders, is established on the Johns Hopkins Bayview Medical Center campus in Baltimore.
Dr. Collins was appointed NHGRI director in April 1993. He was formerly a Howard Hughes Medical Institute investigator and professor in the departments of internal medicine and human genetics at the University of Michigan School of Medicine in Ann Arbor. He was also director of the NHGRI-supported human genome center at Michigan.
He pioneered the development of a powerful new gene-finding method known as “positional cloning,” which utilizes the inheritance pattern of the disease within families to pinpoint the location of the gene. Positional cloning has been used to isolate genes even when no information about the gene's function or biochemistry is known. He is perhaps best known for using positional cloning techniques to isolate the genes for cystic fibrosis, neurofibromatosis type 1, Huntington's disease, and several others.
He is also chief of NHGRI’s Laboratory of Gene Transfer. He pioneered the development of a powerful gene-finding method known as “positional cloning,” which utilizes the inheritance pattern of a disease within families to pinpoint the location of the responsible gene on a chromosome. Positional cloning has been used to isolate dozens of disease genes, and forms the basic strategy for implementing the tools of the Human Genome Project.
Born in Staunton, Virginia, in 1950, Dr. Collins received his bachelor of science degree with highest honors from the University of Virginia. He received both his M.S. and Ph.D. degrees in physical chemistry from Yale University and an M.D. degree from the University of North Carolina School of Medicine. He completed his internship and residency in internal medicine at the North Carolina Memorial Hospital. From 1981 to 1984, he was a fellow in human genetics and pediatrics at Yale. He joined Michigan in 1984, becoming professor in 1991. He became an HHMI assistant investigator in 1987 and full investigator in 1991. He is a diplomate of the American Board of Internal Medicine, the American Board of Medical Genetics, and the American College of Medical Genetics.
He was elected to the IOM in 1991 and the NAS in 1993. He is also a member of the board of directors of the American Society of Human Genetics, the American Federation for Clinical Research, the American Society for Clinical Investigation, and the Association of American Physicians.
Among Dr. Collins' awards and honors, he has received the Gairdner Foundation International Award, the Young Investigator Award of the American Federation for Clinical Research, the Doris Tulcin Award for Cystic Fibrosis Research, the University of Michigan’s Distinguished Faculty Achievement Award, the National Medical Research Award, and the University of Pittsburgh Dickson Prize. He holds honorary degrees from Emory University and Yale University.
Human Genome Project research aims to achieve the goals established in research plans in 1990 and updated in 1993. Work toward these goals is managed by program directors in genome analysis, genome informatics and genetic variation, large-scale DNA sequencing, technology development, and the ethical, legal, and social implications of human genome research.
With original goals for genetic and physical mapping of the human genome essentially met, NHGRI supports improvements in genetic mapping technology, such as new types of genetic markers, novel genotyping technology, and new analytical tools to maximize the usefulness of genetic maps, especially for teasing apart the genetic contributions to complex traits.
Genome researchers have begun systematic sequencing of human DNA to meet the project’s most ambitious goal: to spell out letter by letter, the complete set of genetic instructions for a human being. The Division of Extramural Research supports projects to further improve DNA sequencing technology and increase capability for high-throughput DNA sequencing in the human and model organisms.
In addition, studies to develop new or improved methods for rapidly identifying and efficiently mapping all coding regions, genes, and other functional elements in genomic DNA are under way.
HGP informatics activities develop and apply new technologies for acquisition, management, analysis, and dissemination of genomic mapping and sequencing information. Informatics research and development projects are carried out with the active participation of the ultimate end users, biological scientists.
Because it is vitally important for society to use new technologies safely and responsibly, the Human Genome Project has set aside some 5 percent of its research budget to study the ethical, legal, and social implications (ELSI) of genome research. Results of ELSI studies provide policy makers with an information base upon which to formulate laws and other policies about the use of genetic technologies. The ELSI program focuses its research on four priority areas: privacy and fair use of genetic information; responsible clinical integration of genetic technologies; issues surrounding human genetics research; and education of health care providers and the public.
Research activities take place in six main laboratories, including, the Clinical Gene Therapy Branch, Genome Technology Branch, Laboratory of Genetic Disease Research, Laboratory of Cancer Genetics, Laboratory of Gene Transfer, and the Medical Genetics Branch.
In addition to studies of so-called “single-gene” disorders that arise from errors in one gene, DIR scientists are investigating new strategies to tease apart the complex genetic and environmental contributions to disorders that commonly affect Americans, such as many cancers and diabetes. Improved diagnostics are being developed to detect chromosomal abnormalities that lead to reproductive and developmental problems as well as cancers.
DIR researchers have also established clinical and laboratory training programs in medical genetics. Education programs are under development or in place for genetic counselors, nurse geneticists, and M.D. and Ph.D. fellows in medical genetics. Research is also conducted on how best to communicate genetic information to individuals and families at risk.
An Office of Genome Ethics, still in its formative stages, is addressing specific questions raised by genetics research as well as setting up a model curriculum in ethical conduct of research for trainees in genetics. DIR also sponsors active training programs for visiting investigators and minority scientists.