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NIH 1998 Almanac/The Organization/NHGRI/      

National Human Genome Research Institute: Major Programs


Office of the Director

In addition to overseeing NHGRI’s scientific programs, the Office of the Director manages administrative functions, including financial management, human resources, and policy and public affairs activities.

Division of Extramural Research

The leading player in the Human Genome Project, NHGRI’s Division of Extramural Research oversees research projects to map and sequence the full set of genetic instructions, known as the "genome," of the human and several important model organisms; to develop computerized data storage and analysis techniques for this information; and to examine the ethical and social impact of human genetics research. These research activities take place primarily in university laboratories, research institutions, and private companies throughout the country.

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.

Division of Intramural Research

NHGRI’s Division of Intramural Research (DIR) was established on the NIH campus in 1993. The overall mission of the division is to develop and implement technology for the rapid isolation and analysis of disease genes, and new strategies for treatment of genetic diseases. DIR scientists foster productive collaborations with other human genetics research projects at the NIH, complementing ongoing activities in human molecular genetics, structural biology, and gene therapy.

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, Genetics and Molecular Biology Branch, 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.

Center for Inherited Disease Research

Established in 1996, the Center for Inherited Disease Research (CIDR) is a joint effort by eight NIH institutes. NHGRI serves as lead agency and manager of the CIDR facility. Located on the campus of the Johns Hopkins Bayview Medical Center, CIDR provides high-throughput genotyping services to researchers attempting to identify genetic factors involved in multifactorial human diseases. CIDR will focus on mapping genes contributing to such common diseases as cardiovascular and pulmonary disease, cancer, psychiatric disorders, hearing and language disorders, neurological disease, diabetes, and autoimmune diseases, among others. The center will provide the research community with the resources to analyze at least 6-9 common disorders per year.


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