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{{Short description|Institute of the National Institutes of Health, located in Bethesda, Maryland, US}} {{Infobox government agency | name = National Human Genome Research Institute (NHGRI) | seal = | logo = National Human Genome Research Institute logo.svg | formed = | jurisdiction = [[Federal government of the United States]] | employees = | budget = | chief1_name = Dr. [[Eric D. Green]] | chief1_position = Director | chief2_name = | chief2_position = | chief3_name = | chief3_position = | chief4_name = | chief4_position = | chief5_name = | chief5_position = | chief6_name = | chief6_position = | chief7_name = | chief7_position = | chief8_name = | chief8_position = | chief9_name = | chief9_position = | parent_department = [[United States Department of Health and Human Services]] | parent_agency = [[National Institutes of Health]] | website = https://www.genome.gov/ }}The '''National Human Genome Research Institute''' ('''NHGRI''') is an institute of the [[National Institutes of Health]], located in [[Bethesda, Maryland]]. 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.<ref>{{Cite web|last=Samorodnitsky|first=Dan|date=2020-11-09|title=The NIH is turning the human reference genome into a pangenome|url=https://massivesci.com/articles/human-genome-project-nhgri-pangenome-video/ |access-date=2021-01-15|website=Massive Science}}</ref><ref>{{cite journal |vauthors=Nurk S, Koren S, Rhie A, Rautiainen M, Bzikadze AV, Mikheenko A, Vollger MR, Altemose N, Uralsky L, Gershman A, Aganezov S, Hoyt SJ, Diekhans M, Logsdon GA, Alonge M, Antonarakis SE, Borchers M, Bouffard GG, Brooks SY, Caldas GV, Chen NC, Cheng H, Chin CS, Chow W, de Lima LG, Dishuck PC, Durbin R, Dvorkina T, Fiddes IT, Formenti G, Fulton RS, Fungtammasan A, Garrison E, Grady PG, Graves-Lindsay TA, Hall IM, Hansen NF, Hartley GA, Haukness M, Howe K, Hunkapiller MW, Jain C, Jain M, Jarvis ED, Kerpedjiev P, Kirsche M, Kolmogorov M, Korlach J, Kremitzki M, Li H, Maduro VV, Marschall T, McCartney AM, McDaniel J, Miller DE, Mullikin JC, Myers EW, Olson ND, Paten B, Peluso P, Pevzner PA, Porubsky D, Potapova T, Rogaev EI, Rosenfeld JA, Salzberg SL, Schneider VA, Sedlazeck FJ, Shafin K, Shew CJ, Shumate A, Sims Y, Smit AF, Soto DC, Sović I, Storer JM, Streets A, Sullivan BA, Thibaud-Nissen F, Torrance J, Wagner J, Walenz BP, Wenger A, Wood JM, Xiao C, Yan SM, Young AC, Zarate S, Surti U, McCoy RC, Dennis MY, Alexandrov IA, Gerton JL, O'Neill RJ, Timp W, Zook JM, Schatz MC, Eichler EE, Miga KH, Phillippy AM |display-authors=6 |date=March 31, 2022 |title=The complete sequence of a human genome |journal=Science |volume=376 |issue=6588 |pages=44–53 |doi=10.1126/science.abj6987 |pmid=35357919 |pmc=9186530 |doi-access=free|bibcode=2022Sci...376...44N }}</ref> ==Organizational structure== NHGRI is organized into seven divisions and the Office of the Director.<ref>{{Cite web|url=https://www.genome.gov/10000968/organization/|title=Organization|website=National Human Genome Research Institute (NHGRI)|language=en-US|access-date=2018-06-02}}</ref> 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== {{main|List of events in NHGRI 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 genome|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,<ref>{{cite web|url=http://www.genome.gov/25521052/2007-release-study-to-probe-how-healthy-younger-adults-make-use-of-genetic-tests|title=Study to Probe How Healthy Younger Adults Make Use of Genetic Tests|date=May 4, 2007|website=Genome.gov}}</ref> 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.<ref>{{cite web|url=http://www.genome.gov/27026551/2008-release-francis-s-collins-to-step-down-as-director-of-national-human-genome-research-institute|title=Francis S. Collins to Step Down as Director of National Human Genome Research Institute|date=May 28, 2008|website=Genome.gov}}</ref> [[Alan Edward Guttmacher]]<!--not to be confused with Alan F. Guttmacher ([[Alan Guttmacher]]), who died in 1974.--> has been appointed acting director while a new permanent director is sought.<ref>{{cite news | author=staff | title=Francis Colins to Leave NHGRI August 1 | type=print | work=[[Genetic Engineering & Biotechnology News]] | publisher=[[Mary Ann Liebert, Inc.]] | page=7 | date=2008-06-15 }}</ref> * 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. ==Past directors== Past directors from 1989 - present<ref>{{cite web|title=NHGRI Directors|url=https://www.nih.gov/about-nih/what-we-do/nih-almanac/national-human-genome-research-institute-nhgri|website=www.nih.gov|date=9 July 2015 }}</ref> {| class=wikitable style="text-align:center" |- !Portrait !Director !Took office !Left office |- |[[File:James D Watson.jpg|100px]] |[[James Watson]] |1989 |April 1992 |- |[[File:Michael Gottesman (41871897991).jpg|100px]] |[[Michael M. Gottesman]] (acting) |April 1992 |April 1993 |- |[[File:Francis S. Collins (from the NHGRI).jpg|100px]] |[[Francis Collins]] |April 1993 |August 2008 |- |[[File:Guttmacher20054-300.jpg|100px]] |[[Alan Edward Guttmacher]] (acting) |August 2008 |December 2009 |- |[[File:Dr Eric D Green, Director of NHGRI.jpg|100px]] |[[Eric D. Green]] |December 2009 |Present |- |} ==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.<ref>{{cite web|url=http://www.genome.gov/Funded-Programs-Projects/ELSI-Research-Program-ethical-legal-social-implications|title=Ethical, Legal and Social Implications Research Program|website=Genome.gov}}</ref> In 2004 the ELSI program established several Centers for Excellence in ELSI research (CEER). It was funded with substantial contributions from the U.S. [[United States Department of Energy|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.<ref>{{Cite web|url=http://depts.washington.edu/cghe/CGHE-CEER|title=CGHE as a CEER {{!}} CGHE|date=August 31, 2004|website=depts.washington.edu|url-status=dead|archive-url=https://web.archive.org/web/20160304051003/http://depts.washington.edu/cghe/CGHE-CEER|archive-date=March 4, 2016|access-date=2020-01-22}}</ref> The initial centers were<ref>{{cite web|url=http://www.genome.gov/12512375/2004-release-nhgri-launches-ceers|title=NHGRI Launches Centers for Excellence in Ethical, Legal and Social Implications Research|website=Genome.gov}}</ref> * [[Case Western Reserve]] University's Center for Genetic Research Ethics and Law (CGREAL); Eric Juengst, Ph.D., $5.3 million * The [[Duke University|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.<ref>{{Cite web|url=http://depts.washington.edu/cghe/|title=Welcome to the Center for Genomics and Healthcare Equality {{!}} CGHE|date=2016-03-04|url-status=dead|archive-url=https://web.archive.org/web/20160304024332/http://depts.washington.edu/cghe/|archive-date=March 4, 2016|access-date=2019-12-07}}</ref> ==Funding== The NHGRI is publicly funded. In support of moving to a translational model, the NHGRI published their funding mechanisms for ELSI research.<ref>{{cite web|url=http://www.genome.gov/Pages/About/NACHGR/February2012AgendaDocuments/CONCEPT_CLEARANCE_CEERs.pdf|title=Concept Clearance|last=NHGRI|first=NIH|work=NHGRI CEER|publisher=NHGRI|access-date=30 April 2012}}</ref> FY 2020 NIH funding was $650.6 million.<ref>{{Cite web|last=Philippidis|first=Alex|date=2020-09-21|title=Top 50 NIH-Funded Institutions of 2020|url=https://www.genengnews.com/a-lists/top-50-nih-funded-institutions-of-2020/|access-date=2021-04-25|website=GEN - Genetic Engineering and Biotechnology News|language=en-US}}</ref> ==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<ref>{{Cite web|title=Matise Lab of Computational Genetics|url=http://compgen.rutgers.edu/|access-date=2021-10-19|website=compgen.rutgers.edu}}</ref> * [[Talking Glossary of Genetic Terms]] *[[Reference genome|Human reference genome]] ==References== {{Reflist}} ==External links== * {{Official|https://www.genome.gov/}} *[https://web.archive.org/web/20160304024332/http://depts.washington.edu/cghe/ CGHE CEER] ([[Wayback Machine]] copy) * [http://www.genome.gov/12512375/ NHGRI CEER] {{National Institutes of Health}} {{authority control}} {{coord|39.00037|-77.10335|type:landmark_globe:earth_region:US-MD|display=title}} [[Category:Genetics or genomics research institutions]] [[Category:National Institutes of Health|Human Genome Research Institute]] [[Category:1989 establishments in Maryland]] [[Category:Medical research institutes in Maryland]]
