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National Human Genome Research Institute

Mission | Important Events | Director | Major Programs


In January 2007, the National Human Genome Research Institute (NHGRI) celebrated its 10th anniversary as an institute of the National Institutes of Health (NIH), marking a decade that saw genomics emerge as a powerful research tool and looking ahead to an era in which genomics will transform medical care.

NHGRI, established originally as the National Center for Human Genome Research in 1989, led the NIH's contribution to the International Human Genome Project. The project, which had as its primary goal the sequencing of the 3 billion DNA letters that make up the human genetic instruction book, was successfully completed in April 2003.

NHGRI's mission has evolved over the years to encompass a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. To that end, the institute supports the development of resources and technology that will accelerate genome research and its application to human health. A critical part of NHGRI's mission continues to be the study of the ethical, legal and social implications (ELSI) of genome research. NHGRI also supports the training of investigators, as well as the dissemination of genome information to the public and to health professionals.

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 supports and administers the role of NIH in genomic research; and the Division of Intramural Research, which is home to the institute's in-house, genetics research laboratories.

Research guidance and guidance related to NHGRI grants comes from the National Advisory Council for Human Genome Research, which meets three times a year, usually in Bethesda, MD. 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 1988—Program advisory committee on the human genome is established to advise the NIH on all aspects of research in the area of genomic analysis.

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

February 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 (HGP).

January 1989—The program advisory committee on the human genome holds its first meeting in Bethesda, MD.

October 1989—The National Center for Human Genome Research (NCHGR) is established to carry out the NIH's component of the HGP.

April 1990—The five-year plan with specific goals for the project is published.

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

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

October 1990—The HGP officially begins.

January 1991—The NACHGR meets for the first time in Bethesda, MD.

April 1992—James Watson resigns as first director of the NCHGR. Michael Gottesman is appointed acting center director.

February 1993—The center's Division of Intramural Research (DIR) is established.

April 1993—Francis S. Collins is appointed NCHGR director.

October 1993—The Human Genome Project revises its five-year goals through September 1998.

September 1994—Human genetic mapping goal achieved one year ahead of schedule.

November 1995—NCHGR celebrates its fifth 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 1996—Human DNA sequencing begins with pilot studies at six U.S. universities.

April 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 co-funded 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 more than 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 HGP.

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 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 the 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, two years ahead of its original schedule. The HGP plans to generate a “working draft” that, together with the 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 a 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 five-year plan for the HGP.  This plan, published in the October 23, 1998, issue of the journal Science, is designed to carry the project forward for the next five years, fiscal years 1999 through 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 of 2000.

October 1999—President Bill 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 annual “Consumer Day” conference to inform patients, families and health care 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 1 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 an Executive Order to prevent genetic discrimination in the federal workplace.

March 2000—Public consortium of scientists and a private company release a substantially complete genome sequence of the fruitfly Drosophila melanogaster. The journal Science publishes the findings.

April 2000—The NHGRI, the 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, also known as Lou Gehrig's disease.

June 2000—The HGP announces a major milestone: 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 journal 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 its second annual “Consumer Day.”

January 2001—The 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 2001—The HGP publishes a series of scientific papers in the journal Nature. The papers, provide 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 is 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 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 uncover human genes by comparing the genomes of mouse and human to each other.

May 2001—Researchers from NHGRI and Sweden's Lund University 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.

September 2001—NHGRI creates the Centers for Excellence in Genomic Sciences (CEGS) program, which supports the formation of interdisciplinary research teams that develop innovative genomic research projects using the data sets and technologies developed by the HGP. The initial CEGS grants are awarded to the University of Washington and Yale University.

November 2001—NHGRI co-sponsors a forum, entitled The Human Genome Project: The Challenges and Impact of Human Genome Research for Minority Communities, to inform the public, students and healthcare providers in minority communities about the scientific advances and the ethical, legal and societal impacts of the HGP.

December 2001—NHGRI holds a planning conference, called Beyond the Beginning: The Future of Genomics, at the Airlie Conference Center in Warrenton, VA, to develop a broad vision for the future of genomics research.

January 2002—NHGRI scientists and collaborators at Johns Hopkins Medical Institutions in Baltimore and The Cleveland Clinic identify a gene on chromosome 1 that is associated with an inherited form of prostate cancer in some families. Nature Genetics publishes the findings.

February 2002—NHGRI and the NIH Office of Rare Diseases launch a new information center to provide accurate, reliable information about genetic and rare diseases to patients and their families.

May 2002—The Mouse Genome Sequencing Consortium releases a working draft assembly of the mouse genome, which is made freely available in public databases.

May 2002—NHGRI prioritizes the next set of model organisms to sequence as capacity becomes available. They include chicken, chimpanzee, several species of fungi, a sea urchin, the honeybee and a microscopic animal commonly used in laboratory studies called Tetrahymena.

July 2002—NHGRI awards two new Centers for Excellence in Genomic Sciences grants to Stanford University and the Molecular Sciences Institute, Berkeley, CA.

June 2002—NHGRI launches a redesigned Web site,, which provides improved usability and easy access to new content for a wide range of users.

September 2002—NHGRI adds the cow, the dog and the ciliate Oxytricha to its list of prioritized model organisms to sequence as capacity becomes available.

September 2002—An international team of researchers led by NHGRI pinpoints the gene defect responsible for a form of the devastating brain disorder microcephaly, found for nine generations in infants among the Old Order Amish. Nature Genetics publishes the results, which may shed new light on normal brain development.

October 2002—NHGRI publishes “A User's Guide to the Human Genome” in Nature Genetics. The “how-to” manual is designedto encourage scientists to explore the human genome sequence available in public databases

October 2002—NHGRI, in cooperation with five other NIH institutes, awards a grant to combine three of the world's current protein databases into a single global resource called UniProt.

October 2002—NHGRI launches the International HapMap Project, a $100 million public-private effort to create a new type of genome map that will chart genetic variation among human populations. The HapMap will serve as a tool to speed the search for the genes involved in common disorders such as asthma, diabetes, heart disease and cancer.

November 2002—NHGRI selects Eric D. Green, M.D., Ph.D., as its new scientific director.

November 2002—NHGRI names William A Gahl, M.D., Ph.D., as its new intramural clinical director

December 2002—The Mouse Genome Sequencing Consortium announces the publication of a high-quality draft sequence of the mouse genome.

March 2003—NHGRI launches the ENCyclopedia Of DNA Elements (ENCODE) pilot project to identify all functional elements in human DNA.

April 2003—NHGRI celebrates the successful completion of the HGP two years ahead of schedule and under budget. The event coincides with, the 50th anniversary of the description of DNA's double helix and the 2003 publication of the vision document for the future of genomics research.

April 2003—NHGRI researchers identify the gene that causes the premature aging disorder progeria. The findings were released online in the journal Nature.

June 2003—NHGRI researchers make discoveries that may lead to safer methods of gene therapy.

June 2003—A detailed analysis of the sequence of the human Y chromosome is published in Nature.

July 2003—A detailed analysis of the sequence of chromosome 7, carried out by a multinational team of scientists led by the Washington University School of Medicine, uncovers structural features that appear to promote genetic changes that can cause disease. The findings were reported in the journal Nature.

August 2003—A team of researchers led by NHGRI compares the genomes of 13 vertebrate animals.  The results, published in Nature, suggest that comparing a wide variety of species' genomes will illuminate genomic evolution and help to identify functional elements in the human genome.

October 2003—NHGRI announces the first grants in a three-year, $36 million scientific reconnaissance mission - called ENCODE - aimed at discovering all parts of the human genome that are crucial to biological function.

November 2003—NHGRI  selects five centers to carry out a new generation of large-scale sequencing projects designed to maximize the promise of the HGP and dramatically expand understanding of human health and disease.

December 2003—NHGRI announces the formation of a new branch - the Social and Behavioral Research Branch - within its Division of Intramural Research.

December 2003—NHGRI announces the first draft version of the chimpanzee genome sequence and its alignment with the human genome.

December 2003—The International HapMap Consortium publishes a paper that sets forth the scientific rationale and strategy behind its effort to create a map of human genetic variation.

January 2004—NHGRI announces that the first draft version of the honey bee genome sequence has been deposited into free public databases.

January 2004—NHGRI and other scientists successfully create transgenic zebra fish using sperm genetically modified and grown in a laboratory dish, an achievement with implications for wide ranging research, from developmental biology to gene therapy. The study was published in the Proceedings of the National Academy of Sciences.

February 2004—The Genetic and Rare Disease Information Center established by NHGRI and the NIH Office of Rare Diseases, announces it has expanded its efforts to enable healthcare workers, patients and families who speak Spanish to take advantage of its free services.

February 2004—NHGRI's Large-Scale Sequencing Research Network announces it will begin sequencing the genome of the first marsupial, the gray short-tailed South American opossum, and more than a dozen other model organisms to further understanding of the human genome.

March 2004—NHGRI announces that the first draft version of the chicken genome sequence has been deposited into free public databases.

March 2004—NHGRI researchers and other scientists find variants in a gene that may predispose people to type 2 diabetes, the most common form of the disease.

March 2004—NHGRI announces that the International Sequencing Consortium has launched a free online resource, where scientists and the public can view the latest information on sequencing projects for animal, plant and eukaryotic genomes.

March 2004—The international Rat Genome Sequencing Project Consortium announces the publication of a high-quality draft sequence of the rat genome.

June 2004—NHGRI and the Melbourne-based Australian Genome Research Facility, Ltd. announce a partnership to sequence the genome of the tammar wallaby, a member of the kangaroo family.

June 2004—NHGRI announces it has established two new Centers of Excellence in Genomic Science at Harvard Medical School in Boston and the Johns Hopkins University School of Medicine in Baltimore.

July 2004—NHGRI announces that the first draft version of the dog genome sequence has been deposited into free public databases.

July 2004—NHGRI launches the NHGRI Policy and Legislative Database, an online resource that will enable researchers, health professionals and the general public to more easily locate information on laws and policies related to a wide array of genetic issues

July 2004—NHGRI scientists and an interdisciplinary consortium of researchers from 11 universities and institutions discover a possible inherited component for lung cancer, a disease normally associated with external causes, such as cigarette smoking.

August 2004—NHGRI's Large-Scale Sequencing Research Network announces a comprehensive strategic plan to sequence 18 additional organisms, including the African savannah elephant, domestic cat and orangutan, to help interpret the human genome.

August 2004—NHGRI launches four interdisciplinary Centers for Excellence in Ethical, Legal and Social Implications Research to address some of the most pressing questions raised by recent advances in genetic and genomic research.

October 2004—NHGRI announces that the first draft version of the bovine genome sequence has been deposited into free public databases.

October 2004—NHGRI awards more than $38 million in grants to develop new sequencing technologies to accomplish the near-term goal of sequencing a mammalian-sized genome for $100,000 and the longer-term challenge of sequencing an individual human genome for $1,000 or less.

October 2004—NHGRI announces the election of two of its medical geneticists, Alan Guttmacher and Robert Nussbaum, to the Institute of Medicine of the National Academies.

October 2004—The International Human Genome Sequencing Consortium, led in the United States by NHGRI and the Department of Energy (DOE), publishes its scientific description of the finished human genome sequence. The analysis, published in Nature, reduces the estimated number of human protein-coding genes from 35,000 to only 20,000-25,000, a surprisingly low number for our species.

October 2004—The ENCODE Consortium publishes a paper in Science that sets forth the scientific rationale and strategy behind its quest to produce a comprehensive catalog of all parts of the human genome crucial to biological function.

November 2004—NHGRI partners with the Office of the U.S. Surgeon General to launch a free computer program, My Family Health Portrait, which the public can use to record important information about their family health history.

December 2004—NHGRI and the international Chicken Genome Sequencing Consortium publish in Nature an analysis comparing the chicken and human genomes. It is the first bird to have its genome sequenced and analyzed.

February 2005—NHGRI establishes an Office of Ethics, appointing Barbara Fuller as Deputy Ethics Counselor.

March 2005—NIH hails the first comprehensive analysis of the sequence of the human X chromosome. The analysis, published in Nature, provides sweeping new insights into the evolution of sex chromosomes and the biological differences between males and females.

August 2005—NHGRI awards grants totaling more than $32 million to advance the development of innovative sequencing technologies intended to reduce the cost of DNA sequencing and expand the use of genomics in biomedical research and health care.

August 2005—In a surprising development, a research team led by NHGRI finds that a class of experimental anti-cancer drugs shows promise in laboratory studies for treating the fatal genetic disorder that causes premature aging. The results are published in the Proceedings of the National Academy of Sciences

August 2005—The first comprehensive comparison of the genetic blueprints of humans and chimpanzees is published in the journal Nature, showing our closest living relatives share perfect identity with 96 percent of our DNA sequence.

October 2005—The NIH awards contracts that will give researchers unprecedented access to two private collections of knockout mice, providing valuable models for the study of human disease and laying the groundwork for a public, genome-wide library of knockout mice.

October 2005—The International HapMap Consortium publishes a comprehensive catalog of human genetic variation. This landmark achievement, published in Nature, serves to accelerate the search for genes involved in common diseases, such as asthma, diabetes, cancer and heart disease.

November 2005—As part of the U.S. Surgeon General's Family Health Initiative, an updated version of the computerized tool designed to help families gather their health history information is unveiled.

December 2005—NHGRI and the National Cancer Institute (NCI) launch The Cancer Genome Atlas (TCGA), a comprehensive effort to accelerate understanding of the molecular basis of cancer through the application of genome analysis technologies.

March 2006—A multi-institution team of experts, coordinated by geneticists from NHGRI, supports efforts to identify more than 70 bodies still unidentified in the aftermath of Hurricane Katrina.

July 2006—Researchers at the NIH Chemical Genomics Center (NCGC) -– a trans-NIH center administered by NHGRI --develop a new screening approach that can profile compounds in large chemical libraries more accurately and precisely than standard methods. This advance speeds the production of data that can be used to probe biological activities and identify leads for drug discovery.

August 2006—NHGRI awards grants totaling $54 million over five years to establish one new Center of Excellence in Genomic Science at the California Institute of Technology in Pasadena, Calif. and continue support for two existing centers.

September 2006—NHGRI and NCI choose the first three cancers to be studied in the pilot phase of The Cancer Genome Atlas. The cancers to be studied in the TCGA Pilot Project are lung, brain (glioblastoma) and ovarian.

October 2006—NHGRI awards grants totaling more than $13 million to further speed the development of innovative sequencing technologies that reduce the cost of DNA sequencing and expand the use of genomics in medical research and health care.

April 2007—In the most comprehensive look at genetic risk factors for type 2 diabetes to date, NHGRI researchers, working in close collaboration with two other scientists, identify at least four new genetic variants associated with increased risk of diabetes and confirm existence of another six. All three reports are published in Science.

May 2007—NHGRI and NCI team with Group Health Cooperative in Seattle and Henry Ford Health System in Detroit to launch the Multiplex Initiative. The effort will explore  the interest level of healthy, young adults in receiving genetic testing for eight common conditions.

July 2007—As part of the TCGA pilot, NCI and NHGRI award eight two-year grants totaling $3.4 million to support the development of innovative technologies for exploring the genomic underpinnings of cancer.

August 2007—Looking ahead to a future in which each person's genome can be sequenced as a routine part of medical research and health care, NHGRI awards more than $15 million in grants to support development of innovative technologies with the potential to dramatically reduce the cost of DNA sequencing.

August 2007—NHGRI establishes Genomic Healthcare Branch, headed by William Gregory Feero to promote the effective integration of genomic discoveries into healthcare.

August 2007—NHGRI awards grants of $30 million to establish a new Center of Excellence in Genomic Science at the Dana Farber-Cancer Institute and to continue support of the center at Stanford University.

August 2007—NHGRI establishes the Office of Population Genomics, headed by Teri Manolio.

October 2007—NHGRI awards grants totaling more than $80 million over the next four years to expand the ENCODE project, which in its pilot phase yielded provocative new insights into the organization and function of the human genome.

October 2007—NHGRI establishes two new centers at the University of North Carolina, Chapel Hill and University of Pennsylvania, Philadelphia, to address the most critical ethical, legal and social questions faced by researchers and patients involved in genetic and genomic research.

October 2007—The NIH Intramural Sequencing Center (NISC), a trans-NIH center administered by NHGRI, celebrates its 10th anniversary with a day-long symposium.

November 2007—An international team of scientists, supported in part by NHGRI, announces that its systematic effort to map the genomic changes underlying lung cancer has uncovered a critical gene alteration not previously linked to any form of cancer. The results are published in Nature.

November 2007—In a White House Ceremony, NHGRI Director Francis S. Collins is awarded the Presidential Medal of Freedom by President George W. Bush.

December 2007—To better understand the role that bacteria, fungi and other microbes play in human health, the NIH launches of the Human Microbiome Project. The human microbiome is the collective genomes of all microorganisms present in or on the human body. NHGRI, the National Institute of Allergy and Infectious Diseases, and the National Institute of Dental and Craniofacial Research lead the project on behalf of NIH.

January 2008—An international research consortium announces the 1000 Genomes Project. This ambitious effort will involve sequencing the genomes of at least a thousand people from around the world to create the most detailed and medically useful picture to date of human genetic variation. NHGRI is a major funder of the 1000 Genomes Project.

February 2008—NHGRI and the National Institute of Environmental Health Sciences (NIEHS) collaborate with the U.S. Environmental Protection Agency to begin testing the safety of chemicals, ranging from pesticides to household cleaners. The initiative uses the NIH Chemical Genomics Center's (NCGC) high-speed, automated screening robots to test suspected toxic compounds using cells and isolated molecular targets instead of laboratory animals.

March 2008—NIH announces the establishment of the NIH Intramural Center for Research on Genomics and Global Health (CRGGH), a new venue for research about the way populations are impacted by diseases, including obesity, diabetes and hypertension. CRGGH will employ a genomics approach, collecting and analyzing genetic, clinical, lifestyle and socio-economic data to study a range of clinical conditions that have puzzled and troubled public health experts for decades. CRGGH is part of the NIH Office of Intramural Research and administered by NHGRI.

May 2008—The first analysis of the genome sequence of the duck-billed platypus, reveals clues about how genomes were organized during the early evolution of mammals. The research, published in Nature, was supported in part by NHGRI.

May 2008—President Bush signs into law the Genetic Information Nondiscrimination Act (GINA) that will protect Americans against discrimination based on their genetic information when it comes to health insurance and employment. The bill had passed the Senate unanimously and the House by a vote of 414 to 1.

May 2008—Francis S. Collins announces his intention to step down as NHGRI director on August 1 to explore writing projects and other professional opportunities.

August 2008—Alan E. Guttmacher is named Acting Director of NHGRI.

September 2008—NIH funds a network of nine centers across the country that will use high tech screening methods to identify small molecules for use as biological probes and targets for drug development.. The NIH Chemical Genomics Center, administered by NHGRI, is funded as part of the network.

September 2008—The TCGA Research Network reports the first results of its large-scale, comprehensive study of the most common form of brain cancer, glioblastoma. In a paper published in Nature, the TCGA team describes the discovery of new genetic mutations and other types of DNA alterations with potential implications for the diagnosis and treatment of glioblastoma.

September 2008—The NIH Genes, Environment and Health Initiative, managed by NHGRI and NIEHS, awards grants, estimated to be up to $5.5 million over two years, for six studies aimed at finding genetic factors that influence the risks for stroke, glaucoma, high blood pressure, prostate cancer and other common disorders.

October 2008—A team of researchers from NHGRI and the National Heart, Lung, and Blood Institute (NHLBI) reports in the Proceedings of the National Academy of Sciences that they have discovered an experimental anti-cancer drug can prevent—and even reverse—potentially fatal cardiovascular damage in a mouse model of progeria, a rare genetic disorder that causes the most dramatic form of human premature aging.

October 2008—NIH announces the first awards for its Human Microbiome Project, which will lay a foundation for efforts to explore how complex communities of microbes interact with the human body to influence health and disease.

October 2008—NHGRI researchers help to identify a protein that plays matchmaker between two key types of white blood cells, T and B cells, enabling them to interact in a way that is crucial to establishing long-lasting immunity after an infection. The results are published in Nature.

October 2008—The NIH Human Microbiome Project collaborates with scientists around the globe announce to form the International Human Microbiome Consortium (IHMC), an effort that will enable researchers to characterize the relationship of the human microbiome in the maintenance of health and in disease.

October 2008—A multi-institution team, funded by NHGRI, reports results in Nature of the largest effort to date to chart the genetic changes involved in the most common form of lung cancer, lung adenocarcinoma.

December 2008—An international consortium including NHGRI researchers, in search of the genetic risk factors for obesity, identifies six new genetic variants associated with BMI, or body mass index, a measurement that compares height to weight. The results, funded in part by NIH, are published online in the journal Nature Genetics.

February 2009—An NIH study that includes NHGRI researchers reveals surprising new insights into the process used to initially identify an experimental drug now being tested in people with cystic fibrosis and muscular dystrophy. In a paper published in Proceedings of the National Academies of Sciences, researchers from the NIH Chemical Genomics Center, suggest more work may be needed to make sure the screening process to select promising agents was not flawed by its effects on a firefly enzyme used as a marker.

February 2009—In a large-scale study and an upcoming clinical trial, scientists supported in part by NHGRI, use information from thousands of genetically and geographically diverse patients to develop a way to use genetic information from patients that could help doctors better determine optimal warfarin doses. The analysis is reported in The New England Journal of Medicine.

March 2009—An international team that includes NHGRI investigators reports in the journal Pediatrics that children born to women who have low blood levels of vitamin B12 shortly before and after conception may have an increased risk of a neural tube defect.

March 2009—Researchers from the NIH and NHGRI find a new way of detecting functional regions in the human genome. The novel approach involves looking at the three-dimensional shape of the genome's DNA and not just reading the sequence of the four-letter alphabet of its DNA bases. The results are published online in Science.  

March 2009—A team led by NHGRI scientists identifies a gene that suppresses tumor growth in melanoma, the deadliest form of skin cancer. The finding is reported in the journal Nature Genetics as part of a systematic genetic analysis of a group of enzymes implicated in skin cancer and many other types of cancer.

April 2009—Scientists identify a previously unknown connection between two genetic variants and an increased risk of stroke, providing strong evidence for the existence of specific genes that help explain the genetic component of stroke. The research is funded by NHLBI and several other NIH institutes and centers including NHGRI.

April 2009—NHGRI announces the release of the first version of PhenX, a free online toolkit aimed at standardizing measurements of research subjects' physical characteristics and environmental exposures. The tools give researchers more power to compare data from multiple studies, accelerating efforts to understand the complex genetic and environmental factors that cause cancer, heart disease, depression and other common diseases.

April 2009—The U.S. Department of Agriculture and the NIH announce that an international consortium of researchers has completed an analysis of the genome of domestic cattle, the first livestock mammal to have its genetic blueprint sequenced and analyzed. The landmark research, which received major support from NHGRI, bolsters efforts to produce better beef and dairy products and lead to a better understanding of the human genome.

May 2009—An international research team identifies a number of unsuspected genetic variants associated with systolic blood pressure (SBP), diastolic blood pressure (DBP), and hypertension (high blood pressure), suggesting potential avenues of investigation for the prevention or treatment of hypertension. The work is supported in part by NHGRI.

May 2009—The NIH launches the first integrated drug development pipeline to produce new treatments for rare and neglected diseases. The $24 million program, whose laboratory operations are managed by NHGRI at the NIH Chemical Genomics, jumpstarts a trans-NIH initiative called the Therapeutics for Rare and Neglected Diseases program, or TRND.

May 2009—NHGRI researchers studying the skin's microbiome publish an analysis in the journal Science revealing that our skin is home to a much wider array of bacteria than previously thought. The study, done in collaboration with other NIH researchers, also shows the bacteria that live under your arms likely are more similar to those under another person's arm than they are to the bacteria that live on your forearm.

June 2009—The NIH's Human Microbiome Project awards more than $42 million to expand its exploration of how the trillions of microscopic organisms that live in or on our bodies affect our health.

July 2009—An NIH research team led by NHGRI researchers finds that a single evolutionary event appears to explain the short, curved legs that characterize all of today's dachshunds, corgis, basset hounds and at least 16 other breeds of dogs. In addition to what it reveals about short-legged dogs, the unexpected discovery provides new clues about how physical differences may arise within species and suggests new approaches to understanding a form of human dwarfism. The results are reported in the journal Science.

July 2009—NIH researchers report in the online issue of PLoS Genetics the discovery of five genetic variants related to blood pressure in African-Americans, findings that may provide new clues to treating and preventing hypertension. This effort, which includes NHGRI researchers, marks the first time that a relatively new research approach, called a genome-wide association study, has focused on blood pressure and hypertension in an African-American population.

August 2009—Researchers, supported in part by NHGRI, generate massive amounts of DNA sequencing data of the complete set of exons, or “exomes”, from the genomes of 12 people. The findings, which demonstrate the feasibility of this strategy to find rare genetic variants that may cause or contribute to disease, are published online in the journal Nature.

August 2009—A team of NIH researchers, led by NHGRI, discover variants in just three genes acting in different combinations that account for the wide range of coat textures seen in dogs from the poodle's tight curls to the beagle's stick-straight fur. These findings can be found in the advance online issue of the journal Science.

August 2009—NHGRI researchers lead a study that identifies a new group of genetic mutations involved in the deadliest form of skin cancer, melanoma. This discovery, published in Nature Genetics, is particularly encouraging because some of the mutations, which were found in nearly one-fifth of melanoma cases, reside in a gene already targeted by a drug approved for certain types of breast cancer.

September 2009—NHGRI announces grants expected to total approximately $45 million to establish new Centers of Excellence in Genomic Science at the Medical College of Wisconsin and University of North Carolina, Chapel Hill as well as to continue support of existing centers at Johns Hopkins University and the University of Southern California.

October 2009—NHGRI launches the next generation of its online Talking Glossary of Genetic Terms. The glossary contains several new features, including more than 100 colorful illustrations and more than two dozen 3-D animations that allow the user to dive in and see genetic concepts in action at the cellular level.

October 2009—An NHGRI-led research team finds that carriers of a rare, genetic condition called Gaucher disease face a risk of developing Parkinson's disease more than five times greater than the general public. The findings are published in the New England Journal of Medicine.

November 2009—After an extensive national search, NIH Director Francis S. Collins, M.D., Ph.D., announces the appointment of Eric D. Green, M.D., Ph.D., to be director of the NHGRI.  It is the first time an institute director has risen to lead the entire NIH and subsequently picked his own successor.

Biographical Sketch of NHGRI Director, Eric D. Green, M.D., Ph.D.

Eric D. Green, M.D., Ph.D., was named to be the third director of the National Human Genome Research Institute (NHGRI), effective at the end of November 2009. Prior to this appointment, he was the Scientific Director of NHGRI, a position he has held since 2002. In addition, he served as chief of the NHGRI Genome Technology Branch (since 1996) and director of the NIH Intramural Sequencing Center (NISC) (since 1997). Born and raised in Saint Louis in December 1959, Dr. Green comes from a scientific family. His father, Maurice Green, Ph.D., is chairman of the Institute for Molecular Virology at Saint Louis University School of Medicine, and his brother Michael Green, M.D., Ph.D., is a molecular biologist at the University of Massachusetts at Worcester, where he directs the Program in Gene Function and Expression and is an investigator of the Howard Hughes Medical Institute.

Dr. Green received a Bachelor of Science in bacteriology from the University of Wisconsin at Madison in 1981 and both a Ph.D. in cell biology and an M.D. in 1987 from Washington University in Saint Louis. From 1987 to 1992, he was a resident in laboratory medicine in the departments of pathology and internal medicine at the Washington University School of Medicine, serving as chief resident in laboratory medicine from 1990 to 1992.

For his Ph.D., Dr. Green studied sugar molecules that are attached to proteins. But the scientific debate about the possibility of a Human Genome Project raging in the late 1980s coupled with his clinical interests in laboratory-based diagnostics prompted him to switch scientific fields. Dr. Green became a postdoctoral research fellow in the laboratory of Maynard V. Olson, Ph.D., then at the Washington University School of Medicine genetics department and a pioneer in developing approaches for studying whole genomes.

In 1992, Dr. Green was appointed assistant professor of pathology, genetics, and internal medicine at the Washington University School of Medicine, as well as a co-investigator in the Human Genome Center at Washington University, which made substantial contributions to the early successes of the Human Genome Project.

Dr. Green was recruited to join the newly formed NHGRI Division of Intramural Research in 1994. Two years later, he earned tenure at the National Institutes of Health (NIH), rising to the rank of a senior investigator; that same year, he was also appointed chief of the Genome Technology Branch. The next year, he became the founding director of NISC.

In 2002, Dr. Green was named NHGRI scientific director and director of the NHGRI Division of Intramural Research.

Honors given to Dr. Green include a Helen Hay Whitney Postdoctoral Research Fellowship (1989-1990), a Lucille P. Markey Scholar Award in Biomedical Science (1990-1994), induction into the American Society for Clinical Investigation (2002), the Lillian M. Gilbreth Lectureship for Young Engineers at the National Academy of Engineering (2001), an Alumni Achievement Award from Washington University School of Medicine (2005), and induction into the American Association of Physicians (in 2007). He is a Founding Editor of the journal Genome Research (1995-present) and a Series Editor of Genome Analysis: A Laboratory Manual (1994-1998), both published by Cold Spring Harbor Laboratory Press. He is also Co-Editor of Annual Review of Genomics and Human Genetics (since 2005). Dr. Green has authored and co-authored over 240 scientific publications.

NHGRI Directors

Name In Office from To
James D. Watson 1989 April 10, 1992
Michael Gottesman (Acting) April 10, 1992 April 1993
Francis S. Collins April 1993 August 2008
Alan E. Guttmacher (Acting) August 2008 December 2009
Eric D. Green December 2009 Present

Major Programs

Office of the Director

The Office of the Director oversees general operations, administration and communications for the National Human Genome Research Institute (NHGRI). The director's office provides overall leadership; sets policies; develops scientific, fiscal and management strategies; assists in governing the ethical behavior of its employees; and coordinates genomic research for the NIH with other federal, private and international programs.

The office also supports international meetings, workshops and other activities essential to the efficient international coordination and exchange of data.

Division of Extramural Research

The Division of Extramural Research (DER) supports and administers the role of the NIH in genomic research. In consultation with the broader genomic community, the DER supports grants for research and for training and career development at sites nationwide.

Three branches perform the work of this division. The Extramural Programs Branch administers and supports grants for extramural research, institutional training, fellowships, career awards and minority awards in support of genomic research; plans and supports activities that advance genomics; and directs the Ethical, Legal and Social Implications (ELSI) Research Program, which explores the ethical and policy issues raised by genetic research. The Scientific Review Branch plans and conducts the initial peer review of most of the research applications to NHGRI. The Grants Administration Branch oversees the fiscal aspects of NHGRI grant programs.

The DER also provides administrative management for three chartered advisory committees whose members review NHGRI's intramural and sponsored research.

Division of Intramural Research

The Division of Intramural Research (DIR) at the NHGRI plans and conducts a broad program of laboratory and clinical research to translate genome research into a greater understanding of human genetic disease. The DIR acts as a focal point at the NIH for genome research and maintains core facilities that serve as a resource for the entire NIH intramural research community. It evaluates research efforts and establishes intramural program priorities; allocates funds, space and personnel ceilings to ensure maximum utilization of available resources in the attainment of NHGRI objectives; and integrates new research activities into the program structure.

The DIR also collaborates with other NIH institutes, centers and external research institutions; maintains an awareness of national and international research efforts in relevant program areas; and advises the director and staff on areas of science and intramural research programs of interest to NHGRI.

This page last reviewed on October 12, 2011

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