NIH 1998 Almanac/The Organization/NHGRI/
National Human Genome Research Institute: Major Programs
Office of the Director
In addition to overseeing NHGRIs 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, NHGRIs 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
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
Genome researchers have begun systematic sequencing of human DNA to meet the
projects 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
NHGRIs 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
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
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.