National Human Genome Research Institute

The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland.

National Human Genome Research Institute (NHGRI)
Agency overview
JurisdictionFederal government of the United States
Agency executive
  • Dr. Eric D. Green, Director
Parent departmentUnited States Department of Health and Human Services
Parent agencyNational Institutes of Health
Websitehttps://www.genome.gov/

NHGRI began as the Office of Human Genome Research in The Office of the Director in 1988. This Office transitioned to the National Center for Human Genome Research (NCHGR), in 1989 to carry out the role of the NIH in the International Human Genome Project (HGP). The HGP was developed in collaboration with the United States Department of Energy (DOE) and began in 1990 to sequence the human genome. In 1993, NCHGR expanded its role on the NIH campus by establishing the Division of Intramural Research (DIR) to apply genome technologies to the study of specific diseases. In 1996, the Center for Inherited Disease Research (CIDR) was also established (co-funded by eight NIH institutes and centers) to study the genetic components of complex disorders.

In 1997 the United States Department of Health and Human Services (DHHS) renamed NCHGR the National Human Genome Research Institute (NHGRI), officially elevating it to the status of research institute – one of 27 institutes and centers that make up the NIH.

The institute announced the successful sequencing of the human genome in April 2003, but there were still gaps remaining until the release of T2T-CHM13 by the Telomere-to-Telomere Consortium.[1][2]


Organizational structure

NHGRI is organized into seven divisions and the Office of the Director.[3] Four of these divisions support extramural research (the grant-giving side), one coordinates the intramural (on-campus) research arm of the institute, one deals with administration, management, and budget, and one serves as the public-facing side of the institute housing the communications, policy, and education teams.

History
  • October 1, 1988 – The Office for Human Genome Research is created within the Office of the Director, National Institutes of Health (NIH). Also, NIH and the Department of Energy (DOE) sign a memorandum of understanding to "coordinate research and technical activities related to the human genome."
  • April 11, 1996 – Human DNA sequencing begins with pilot studies at six universities in the United States.
  • March 1999 – Large-scale sequencing of the human genome begins.
  • April 2003 – The National Human Genome Research Institute (NHGRI) celebrates the completion of the human genome sequence, the 50th anniversary of the description of the DNA double helix and the publication of the vision document for the future of genomics research.
  • May 4, 2007 – The National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI), have teamed with Group Health Cooperative in Seattle and Henry Ford Health System in Detroit to launch the Multiplex Initiative,[4] a study to investigate the interest level of healthy, young adults in receiving genetic testing for eight common conditions.
  • May 28, 2008 – Francis S. Collins steps down as director of the institute after serving for fifteen of the nineteen years of its operation.[5] Alan Edward Guttmacher has been appointed acting director while a new permanent director is sought.[6]
  • November 17, 2009 – NIH Appoints Eric D. Green, M.D., Ph.D. to be director of The National Human Genome Research Institute. It is the first time an institute director has risen to lead the entire NIH and subsequently picked his own successor.

CEER centers

In 1990 as part of the Human Genome Project, the NHGRI dedicated 5% of its annual budget to explore the ethical, legal, and social implications of genomic research. This program's current priorities focus on the ethical applications of genomics to as it applies to communities, families, and individuals in areas such as healthcare, research, defense, intellectual property, regulation, policy, and larger social issues.[7] In 2004 the ELSI program established several Centers for Excellence in ELSI research (CEER). It was funded with substantial contributions from the U.S. Department of Energy and the National Institute of Child Health and Human Development. CEER centers have a common focus on the ethical, social, and legal implications resulting from the advances in genomic research.[8]

The initial centers were[9]

  • Case Western Reserve University's Center for Genetic Research Ethics and Law (CGREAL); Eric Juengst, Ph.D., $5.3 million
  • The Duke Center for the Study of Public Genomics; Robert Cook-Deegan, M.D., $4.8 million
  • Stanford University School of Medicine's Center for Integration of Research on Genetics and Ethics; Mildred Cho, Ph.D., $3.8 million
  • University of Washington's Center for Genomics and Healthcare Equality; Wylie Burke, M.D., Ph.D., $4.7 million

This center is focused on equitable distribution and use of translational genome research in underserved and marginalized communities. CGHE has several cores working to address different lenses of health disparities, genomic research, and outreach education. These cores include the Partnership core, the Genome Sciences core, the Healthcare Decision-making core and the Indigenous Genomics Alliance.[10]

Funding

The NHGRI is publicly funded. In support of moving to a translational model, the NHGRI published their funding mechanisms for ELSI research.[11] FY 2020 NIH funding was $650.6 million.[12]

See also
  • Julie Segre, chief and senior investigator of the Translational and Functional Genomics Branch
  • Ellen Sidransky, chief of the Molecular Neurogenetics Section
  • Tara Matise, Head of Computational Genetics at Rutgers University and Director of the Coordinating Center for the NHGRI Genome Sequencing Program[13]
  • Talking Glossary of Genetic Terms
  • Human reference genome

References
  1. Samorodnitsky, Dan (2020-11-09). "The NIH is turning the human reference genome into a pangenome". Massive Science. Retrieved 2021-01-15.
  2. Nurk S, Koren S, Rhie A, Rautiainen M, Bzikadze AV, Mikheenko A, et al. (March 31, 2022). "The complete sequence of a human genome". Science. 376 (6588): 44–53. doi:10.1126/science.abj6987.
  3. "Organization". National Human Genome Research Institute (NHGRI). Retrieved 2018-06-02.
  4. "Study to Probe How Healthy Younger Adults Make Use of Genetic Tests". Genome.gov. May 4, 2007.
  5. "Francis S. Collins to Step Down as Director of National Human Genome Research Institute". Genome.gov. May 28, 2008.
  6. staff (2008-06-15). "Francis Colins to Leave NHGRI August 1". Genetic Engineering & Biotechnology News (print). Mary Ann Liebert, Inc. p. 7.
  7. "Ethical, Legal and Social Implications Research Program". Genome.gov.
  8. "CGHE as a CEER | CGHE". depts.washington.edu. August 31, 2004. Archived from the original on March 4, 2016. Retrieved 2020-01-22.
  9. "NHGRI Launches Centers for Excellence in Ethical, Legal and Social Implications Research". Genome.gov.
  10. "Welcome to the Center for Genomics and Healthcare Equality | CGHE". 2016-03-04. Archived from the original on March 4, 2016. Retrieved 2019-12-07.
  11. NHGRI, NIH. "Concept Clearance" (PDF). NHGRI CEER. NHGRI. Retrieved 30 April 2012.
  12. Philippidis, Alex (2020-09-21). "Top 50 NIH-Funded Institutions of 2020". GEN - Genetic Engineering and Biotechnology News. Retrieved 2021-04-25.
  13. "Matise Lab of Computational Genetics". compgen.rutgers.edu. Retrieved 2021-10-19.

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