Institutes and Research Divisions
National Center for Human Genome Research


The National Center for Human Genome Research (NCHGR) was established in 1989 to head the NIH's role in the Human Genome Project. The center's Division of Extramural Research funds research in chromosome mapping, DNA sequencing, database development, technology development for genome research, and studies of the ethical, legal, and social implications of genetics research in laboratories throughout the country.

In February 1993 NCHGR expanded its role on the NIH campus with the establishment of a Division of Intramural Research, focuses on applying genome technologies to finding human disease genes, developing DNA-based diagnostics and gene therapies. The division serves as a hub for NIH-wide human genetic research, enhancing the work of investigators in NIH institutes who are searching for specific genes and studying their function in health and disease.


Important Events in NCHGR History

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

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-- NCHGR 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 NCHGR 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 NCHGR. Michael Gottesman was appointed acting NCHGR director.

February 1993-- The NCHGR Division of Intramural Research was established.

April 4, 1993-- Francis S. Collins was appointed NCHGR 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.

Director's of NCHGR

NameDate of Birth Dates of Office
James D. Watson1928 1989April 10, 1992
Michael Gottesman (Actg)1946April 10, 1992April 1993
Francis S. Collins1950April 1993.........................

Biographical Sketch of NCHGR Director

Francis S. Collins, M.D., Ph.D.

Dr. Collins was appointed NCHGR 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 NCHGR-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, and most recently, Huntington's disease.

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, the Association of American Physicians, and sits on the executive council of the international Human Genome Organization. He serves as an associate editor for several publications, including Genomics; Genes, Chromosomes and Cancer; Human Molecular Genetics; Somatic Cell and Molecular Genetics; and Human Mutation.

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.


Major Programs

Division of Extramural Research

Mapping Technology Branch.

This branch supports research with special emphasis on technology development to improve the resolution, information content, and utility of genomic maps. Specific areas of interest include new or improved methods to facilitate the efficient construction and annotation of genetic and physical maps strategies for identifying genes, coding regions, and other functional elements in genomic DNA and strategies for high-throughput mapping and sequencing of human cDNAs.

The Mapping Technology Branch is also the focal point in NCHGR for training, career development, and special programs. As such the branch plans and administers programs of individual pre- and postdoctoral fellowships, institutional training grants, career awards, minority awards, international exchanges, short courses, and chromosome-specific workshops and other meetings.

Mammalian Genetics Branch.

The branch is responsible for the administration and support of research directed to the highly efficient construction of complete genetic and physical maps of individual mammalian chromosomes and entire mammalian genomes and to teh sequencing of large (megabase) regions of mammalian DNA. The MGB supports research in genome informatics, including database research, development and maintenance of genome databases, and research into algorithms and technques for genomic analysis.

This branch serves as the focal point in the NCHGR for policy development for the Genome Science and Technology Centers program.


NCHGR Appropriations -- Grants and Direct Operations
[Amounts in thousands of dollars]

Total Grants*
Direct Operations
1990 54,589 4,93859,527
199182,368 5,02187,389
199298,549 6,207104,756
1993100,000 6,095106,095
1994**99,340 27,677127,017
1995105,539 48,250153,789
*Includes the intramural research program, R&D contracts, and research management and support.
** First appropriation for Division of Intramural Research.

Sequencing Technology Branch.

The Sequencing Technology Branch funds research to develop new methods, technologies, and instruments that will be the basis for fully integrated, innovative approaches to the rapid, low-cost determination of DNA sequence. Areas of interest include both refinement and full automation of current approaches to DNA sequencing as well as novel approaches to achieve order-of-magnitude improvements in sequencing capability. The branch also supports research to develop maps and to determine the sequence of the genomic DNA of nonmammalian organisms. The branch promotes collaborative, multidisciplinary research aimed at closely integrating research at academic and industrial laboratories.

Ethical, Legal, and Social Implications (ELSI) Branch.

This branch supports research to anticipate and resolve the ethical, legal and social issues arising from human genome research. Investigating these issues alongside the scientific research is a novel pursuit prompted by concern about the responsible use of information generated by human genetics research. This branch fosters public education and discussion of ELSI issues. The program has defined three priority areas of research: 1) clinical practices in the introduction of new genetic services, 2) access to and use of personal genetic information by parties outside the clinical setting, and 3) public and professional understanding of concepts and issues involving genetics.

Division of Intramural Research

NCHGR's Division of Intramural Research was established to serve as a hub where development of technology for the rapid isolation and analysis of disease genes will be carried out, together with research on DNA diagnostic technology and gene therapy. In the division's proposed basic research laboratories and clinical branches, highly experienced scientists and technicians, as well as postdoctoral fellows and other trainees, will develop and use the most advanced techniques to conduct research in medical genetics.

Research will include indentifying and understanding the molecular basis of human genetic disease and planning and carrying out clinical trials to test methods for the treatment and perhaps the cure of such diseases. Researchers in the division will collect and study families in which important diseases are inherited--a facet that will provide the nucleus for a physician training program in medical genetics--and translate basic science advances into effective, reliable, and cost-effective DNA- and cytogenetic-based diagnostics.

The division will collaborate with other human genetics research efforts at NIH, complementing ongoing activities in human molecular genetics, structural biology, and gene therapy. It provides a core of support facilities as a resource for the NIH community.

These labs have expertise in genotyping and analyzing large families as a basis for genetic mapping, produce radiation reduced hybrid cell lines, perform chromosome microdissection, and support a physical mapping core to serve as a repository and distribution center for clones.

Since many common diseases appear to result from the interaction of more than one gene, as well as environmental factors, the intramural division will develop technologies to address the difficulties associated with analyzing multilocus diseases. As genetics increasingly becomes a part of everyday medicine, the division will play a major role in developing and participating in public education programs.

Technology Transfer Office

This program is responsible for the implementation of the Federal Technology Transfer Act of 1986 and serves as the focal point of pertinent legislation, rules and regulations and the administration of activities relating to collaborative agreements, inventions, patents, licensing and royalties and associated matters.

Laboratory of Genetic Disease Research

This unit studies genome organization and seeks to identify the causes of human genetic diseases. Using positional cloning techniques and model systems, investigators attempt to identify and characterize disease genes. This laboratory improves existing quantitative approaches to gene mapping, large-scale sequencing and lab automation technologies. Investigators in this lab determine the function of genes involved in human genetic diseases.

Laboratory of Cancer Genetics

While predisposition to some cancers is hereditary, many others result from genetic changes that occur throughout life. Using techniques of cytogenetics, chromosome microdissection and positional cloning, researchers in this laboratory seek to define the genetic changes in somatic cells that lead to cancer and the inherited mutations that predispose family members to cancer. Genes involved in the development of malignant characteristics in cancer cells, such as drug resistance and metastasis, is also studied.

Laboratory of Gene Transfer

This laboratory serves as the focal point at NIH for the development of human gene therapy techniques. Investigators develop vectors and other technologies to introduce cloned genes and DNAs into somatic cells to correct inherited diseases or the effects of acquired mutations in DNA.

Researchers explore gene therapy approaches in cultured cells and targeted introduction of genetic material into animal models. Transgenic animals that model human diseases are be developed for testing prototype gene therapy strategies.

Diagnostic Development Branch

One of the first clinical spinoffs of gene discovery is the development of DNA-based diagnostic techniques. Gene hunters in NCHGR's Laboratory of Genetic Disease Research are uncovering the genetic contributors to a number of inherited diseases. These efforts provide grist for the rapid translation of basic research findings into clinically applied technologies by researchers in the Diagnostic Development Branch. Branch scientists develop DNA-base and cytogenetic tools for diagnosis.

Medical Genetics Branch

This branch evaluates genetic disorders in a comprehensive clinic. Investigators examine patients and families affected by inherited disorders to identify and characterize novel genetic diseases. The Medical Genetics Branch also sponsors a physician training program in medical genetics, as well as a genetic counselor training program.

Clinical Gene Therapy Branch

Researchers in this branch apply developments in gene therapy to the treatment of human disease. Investigators work closely with those in the Laboratory of Human Gene Transfer and staff of the NIH Clinical Center. Researchers monitor and evaluate patients receiving experimental gene therapies.

In addition to the DIR's laboratories and branches, the division supports core resources in genetic mapping, quatitative analysis of genetic linkage data, molecular informatics, and technology development. The division also supports an education and outreach program, a visiting investigator program, and an ethics program to address questions surrounding participation of individuals and families in genetics research protocols as well as related issues.