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NIH Almanac - Organization

Contents
About the Almanac
Historical Data
Organization
Appropriations
Staff
Major NIH Lectures
Nobel Laureates
Past Issues
NHGRI logo   National Human Genome Research Institute
Mission | Important Events | Director | Programs | Appropriations

Mission

The National Human Genome Research Institute (NHGRI) was established originally as the National Center for Human Genome Research in 1989. A chief mission is to lead the National Institutes of Health's (NIH) contribution to the Human Genome Project - a worldwide effort to determine the location of all human genes and to read the entire set of genetic instructions encoded in human DNA. NHGRI carries out this task by providing financial support to investigators at university and other research laboratories throughout the country.

In 1993, NHGRI created an in-house research component to carry out a second part of its mission: to develop and use genome technologies to understand and treat diseases that have genetic components.

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 eight 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 the council meetings are open to the public.

Important Events in NHGRI History

August 15, 1988 – Program advisory committee on the human genome is established to advise NIH on all aspects of research in the area of genomic analysis.

October 1, 1988 – The Office for Human Genome Research is created within the NIH Office of the Director. Also, NIH and DOE sign a memorandum of understanding outlining plans for cooperation on genome research.

February 29-March 1, 1988 – NIH Director James Wyngaarden assembles 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 holds its first meeting in Bethesda, MD.

October 1, 1989 – The National Center for Human Genome Research (NCHGR) is established 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 is published.

May 8, 1990 – The National Advisory Council for Human Genome Research (NACHGR) is established.

July 1, 1990 – The genome research review committee is created so the center could conduct appropriate peer review of human genome grant applications.

October 1, 1990 – The U.S. Human Genome Project officially begins.

January 22, 1991 – The National Advisory Council for Human Genome Research meets for the first time in Bethesda, MD.

April 10, 1992 – James Watson resigns as first director of the center. Michael Gottesman is appointed acting center director.

February 1993 – The center’s Division of Intramural Research is established.

April 4, 1993 – Francis S. Collins is appointed center director.

October 1, 1993 – U.S. Human Genome Project revises its 5-year goals through September 1998.

September 30, 1994 – Human genetic mapping goal achieved 1 year ahead of schedule.

November 15, 1995 – NCHGR celebrates its 5th anniversary. J.D. Watson Lecture is established.

April 1995 – Task Force on Genetic Testing established as a subgroup of the NIH-DOE Ethical, Legal, and Social Implications (ELSI) working group.

April 11, 1996 – Human DNA sequencing begins with pilot studies at six U.S. universities.

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 (CIDR), a project cofunded by eight NIH institutes and centers to study the genetic components of complex disorders, is established on the Johns Hopkins Bayview Medical Center campus in Baltimore.

October 1996 – Scientists from government, university, and commercial laboratories around the world reveal a map that pinpoints the locations of over 16,000 genes in human DNA.

November 1996 – NCHGR and other researchers identify the location of the first gene associated with Parkinson’s disease.

November 1996 – NCHGR and other researchers identify the location of the first major gene that predisposes men to prostate cancer.

December 1996 – Report issued by the Joint NIH/DOE Committee evaluating the ELSI program of the Human Genome Project.

January 1997 – Department of Health and Human Services Secretary Donna E. Shalala signs documents giving NCHGR a new name and new “status” among other research institutes at NIH. The new name, the National Human Genome Research Institute (NHGRI), more accurately reflects its growth and accomplishments. As an institute, NHGRI can more appropriately interact with other Federal agencies and share equal standing with other institutes at NIH.

March 1997 – Government-citizen group suggests policies to limit genetic discrimination in the workplace.

May 1997 – NHGRI and other scientists show that three specific alterations in the breast cancer genes BRCA1 and BRCA2 are associated with an increased risk of breast, ovarian, and prostate cancers.

June 1997 – NHGRI scientists precisely identify a gene abnormality that causes some cases of Parkinson’s disease.

July 1997 – A map of human chromosome 7 is completed.

December 1997 – NHGRI and other researchers identify an altered gene that causes Pendred Syndrome.

March 1998 – Vice President Al Gore announces that the Clinton administration is calling for legislation to bar employers from discriminating against workers in hiring or promotion because of their genetic makeup.

September 1998 – At a meeting of HGP’s main advisory body, project planners present a new plan to produce a “finished” version of the DNA sequence of the human genome by the end of year 2003, 2 years ahead of its original schedule. HGP plans to generate a “working draft” that, together with finished sequence, will cover at least 90 percent of the genome in 2001. The “working draft” will be immediately valuable to researchers and form the basis for high-quality, “finished” genome sequence.

September 1998 – A major international collaborative research study finds on the X chromosome the site of a gene for susceptibility to prostate cancer; this is the first time a gene for a common type of cancer is mapped to the X chromosome.

October 1998 – NIH and DOE develop a new 5-year plan for the U.S. Human Genome Project. This plan, published in the October 23, 1998 issue of the journal Science, is designed to carry the project forward for the next 5 years, fiscal years 1999 though 2003.

December 1998 – The genome of the tiny roundworm (Caenorhabditis elegans) is sequenced by NHGRI and other HGP-funded scientists.

March 1999 – Large scale sequencing of the human genome begins.

September 1999 – Scientists confirm they are on schedule to produce the “working draft” of the genetic blueprint of humankind by Spring 2000.

October 1999 – President Clinton and First Lady Hillary Rodham Clinton host the eighth Millennium Evening at the White House. The program is titled “Informatics Meets Genomics.”

November 1999 – NHGRI hosts the first "Consumer Day" conference to inform patients, families, and healthcare providers about the impact of the HGP.

November 1999 – NHGRI, DOE and Wellcome Trust hold a celebration of the completion and deposition into GenBank of one billion base pairs of the human genome DNA sequence.

December 1999 – NHGRI and other HGP-funded scientists unravel for the first time the genetic code of an entire human chromosome. The findings are reported in the December 2 issue of Nature.

February 2000 – President Clinton signs Executive Order to prevent genetic discrimination in Federal workplace.

March 2000 – Public consortium of scientists and a private company release a substantially complete genome sequence of the fruitfly (Drosophila melanogaster). The findings are reported in Science.

April 2000 – NHGRI, NIH Office of Rare Disease Research, and the Don and Linda Carter Foundation sponsor the first NIH Conference on Holoprosencephaly.

May 2000 – Scientists in Japan and Germany report in Nature that they have unraveled the genetic code of human chromosome 21, already known to be involved with Down syndrome, Alzheimer’s disease, Usher syndrome and Amyotrophic Lateral Sclerosis (Lou Gehrig’s disease).

June 2000 – HGP consortium announces a major milestone – that it has assembled 85 percent of the sequence of the human genome – the genetic blueprint for a human being.

August 2000 – Scientists discover a genetic “signature” that may help explain how malignant melanoma, a deadly form of skin cancer, can spread to other parts of the body. Findings are reported in the August 3 issue of Nature.

October 2000 – The NIH, the Wellcome Trust and three private companies collaborate to form the Mouse Sequencing Consortium to accelerate the sequencing of the mouse genome.

October 2000 – The HGP is the recipient of the American Society of Human Genetics' Allan Award to honor the hundreds of scientists involved in deciphering the human genetic code.

November 2000 – NHGRI hosts the second annual "Consumer Day."

January 2001 – The Ethical, Legal and Social Implications (ELSI) Research Programs of NHGRI and the U.S. Department of Energy cosponsor a conference to celebrate a decade of research and consider the impact of the new science on genetic research, health and policy.

February 15, 2001 – Human Genome Project publishes a series of scientific papers in Nature magazine, providing the first analysis of the human genome sequence, describing how it is organized and how it evolved. The analysis reveals that the human genome only contains 30,000 to 40,000 genes, far fewer than the 100,000 previously estimated.

February 2001 – NHGRI scientists use microarray technology to develop a gene test that differentiates hereditary and sporadic breast cancer types. The New England Journal of Medicine publishes the findings.

March 2001 – NHGRI and HGP-funded scientists find a new tumor suppressor gene on human chromosome 7 that's involved in breast, prostate and other cancers. A single post-doc, using the "working draft" data, is able to pin the gene down in weeks. In the past, the same work would have taken several years and contributions from many scientists.

May 2001 – The Mouse Genome Sequencing Consortium (MSC) announces it has achieved three-fold coverage of the mouse DNA sequence. The publicly available data represents 95 percent of the mouse sequence, and can be used to discover human genes by comparing the genomes of mouse and human to each other.

May 2001 – NHGRI and Lund University (Sweden) scientists develop a method of accurately diagnosing four complex, hard-to-distinguish childhood cancers using microarray technology and artificial neural networks. Nature Medicine publishes the results.

Biographical Sketch of NHGRI Director Francis S. Collins, M.D., Ph.D.

Francis S. Collins, M.D., Ph.D., is a physician-geneticist and the Director of the National Human Genome Research Institute, at NIH. He oversees a complex, multidisciplinary project aimed at mapping and sequencing all of the human DNA, and determining its function. Many consider this the most important scientific undertaking of our time. The project continues to run ahead of schedule and under budget.

Collins was raised on a small farm in Virginia and home-schooled until the sixth grade. He obtained his undergraduate degree in chemistry at the University of Virginia, and went on to obtain a Ph.D. in physical chemistry at Yale University. Recognizing that a revolution was beginning in molecular biology and genetics, he changed disciplines and enrolled in medical school at the University of North Carolina, where he began his studies in the field of medical genetics. After residency and chief residency in internal medicine at Chapel Hill, he returned to Yale for a fellowship in human genetics, where he worked on methods of crossing large stretches of DNA to identify disease genes. He continued to develop these ideas after joining the faculty at the University of Michigan in 1984. This approach, for which he later coined the term positional cloning, has developed into a powerful component of modern molecular genetics, as it allows the identification of disease genes for almost any condition, without knowing ahead of time what the functional abnormality might be.

Together with Lap-Chee Tsui and Jack Riordan of the Hospital for Sick Children in Toronto, Canada, Collins' research team identified the gene for cystic fibrosis using this strategy in 1989. That was followed by his group's identification of the neurofibromatosis gene in 1990, and a successful collaborative effort to identify the gene for Huntington's Disease in 1993. That same year, Collins accepted an invitation to become the second director of the National Center for Human Genome Research, following in the footsteps of James Watson. In that role, Collins has overseen the successful completion of several of the Human Genome Project's goals. In June 2000, the completion of a "working draft" of the human genome sequence was announced, giving scientists all over the world free and unrestricted access to the instruction book for human biology.

In addition, Collins founded a new NIH, intramural research program in genome research, which has now developed into one of the premier research units in human genetics in the country. Collins' research laboratory continues to be vigorously active, exploring the molecular genetics of adult-onset diabetes and other disorders. His accomplishments have been recognized with election to the Institute of Medicine and the National Academy of Sciences, and through numerous national and international awards.

NHGRI Directors

Name Date of Birth In Office From To
James D. Watson 1928 1989 Apr. 10, 1992
Michael Gottesman (Acting) 1946 Apr. 10, 1992 April 1993
Francis S. Collins 1950 April 1993  

Major Programs

Office of the Director

In addition to overseeing the institute's scientific programs, the Office of the Director manages administrative functions, including financial management, human resources, policy, communications and public liaison activities.

Division of Extramural Research

The Division of Extramural Research is the unit within NHGRI that supports and administers the NIH's role in the Human Genome Project, in cooperation with the Department of Energy.

DER, in consultation with the broader genomic community, develops scientific goals and research priorities directed at achieving the objectives of the HGP. In October 1998, after a year-long planning and consultation process, the NHGRI and DOE published a new 5-year plan, New Goals for the U.S. Human Genome Project: 1998-2003. The plan includes eight research goals:

  1. Deciphering the human genetic code, or DNA sequence, and rapidly providing this data freely and without restrictions to the scientific community and the public. From 1990 (when the HGP began) until 1996, genetic and physical maps of the human chromosomes and other resources were developed because they were needed to sequence human DNA at relatively low cost and high accuracy. The physical and genetic maps provide landmarks that help scientists navigate the 3 billion pairs of bases, or DNA letters, on the human chromosomes. These maps also have helped scientists hunting for genes even before the "working draft" sequence became available in the public database GenBank. In 1996, the HGP sponsored a pilot-sequencing program to develop and test methods for large-scale or major DNA sequencing. These efforts were successful, and the full-scale effort to sequence the human genome was launched in March 1999.

  2. Developing efficient technology to sequence human DNA.

  3. Identifying the variations in the human genetic code that underlie disease susceptibility, particularly the most common variations that are called SNPs (single nucleotide polymorphisms).

  4. Interpreting the function of DNA sequence on a genomic scale (functional genomics) - determining how individual genes and groups of genes work together in health and disease.

  5. Deciphering and analyzing the genetic code of model organisms such as yeast, roundworm, fruitfly and mouse. The availability of DNA sequence from such organisms expedites scientists' efforts to identify the roles of human genes.

  6. Examining the ethical, legal and social implications (ELSI) of genome research, identifying barriers to the integration of the results of the HGP into health care, and proposing and implementing solutions as appropriate.

  7. Identifying bioinformatic tools and computational strategies for the collection, analysis, annotation and storage of the ever-increasing amount of DNA mapping and sequencing, and gene expression, data.

  8. Training scientists for genomic research and analysis.

To attain these goals, DER supports research and training grants and contracts at researcher facilities throughout the country. Work toward the 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 (ELSI) of human genome research. Because it is vitally important for society to use new technologies safely and responsibly, the HGP has set aside 5 percent of its research budget to study ELSI-related issues. Results of these studies provide policy makers with an information base upon which to formulate laws and other guidelines 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 seven main branches: the Cancer Genetics Branch, Genetics and Molecular Biology Branch, Genome Technology Branch, Genetic Disease Research Branch, Inherited Disease Research Branch, Medical Genetics Branch, and the Clinical Gene Therapy Branch.

In addition to studies of so-called "single-gene" disorders that arise from errors in one gene, DIR scientists focus on new strategies to tease apart the complex genetic and environmental contributions to disorders that commonly affect Americans, such as diabetes and many cancers. 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.

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 originally supported by eight NIH institutes. Three additional institutes joined the effort in 1999. 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. Although 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, researchers studying more straightforward Mendelian genetic diseases are eligible to apply. The center will provide the research community with the resources to genotype at least six to nine projects per year. On July 1, 2000, the center began offering genotyping services to researchers carrying out mapping studies of inbred strains of mice.

NHGRI Appropriations – Grants and Direct Operations

Fiscal year
Total grants
Direct operations1
Total
(Amounts in thousands of dollars)
1990
$54,589
$4,938
$59,527
1991
82,368
5,021
8,7389
1992
98,549
6,207
104,756
19932
100,000
6,095
106,095
1994
99,340
27,677
127,017
1995
105,539
48,250
153,789
1996
118,669
50,642
169,301
1997
137,012
51,945
188,957
1998
162,028
56,312
219,340
1999
215,146
63,884
279,030
2000
270,975
64,154
335,129
2001
298,817
73,629
372,446

1 Includes the intramural research program, R&D contracts, and research management and support.
2 First appropriation for Division of Intramural Research.

 
This page was last reviewed on July 12, 2002 .

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