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Staff
Dr. Gerard Bouffard directs the Bioinformatics Group at the NIH Intramural Sequencing Center (NISC).
… of the Human Genome Project. In 1997, he co-founded the NIH Intramural Sequencing Center (NISC) as director of the … Gerard Bouffard, NIH Intramural Sequencing Center (NISC), bioinformatics, … Gerard Bouffard, NIH Intramural Sequencing Center (NISC), bioinformatics, …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… March 20, 2026 Update: Unfortunately, the JHU/NIH Genetic Counseling Training program will be sunsetting as …  For questions, please contact Megan Cho at megan.cho@nih.gov . Drawing on resources from three outstanding … Institute (NCI) at the National Institutes of Health (NIH) and the Department of Health, Behavior and Society at …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… Currently, the test is only available for use at the NIH Clinical Center; however, the researchers hope it will … About NHGRI, NIDDK, NIMH and NIH … NIH scientists develop breath test for methylmalonic acidemia … NIH researchers have developed a breath test that measures …
News Release
NIH leaders are calling for the scientific community to develop a consensus on the appropriate use of race and ethnicity in biomedical research.
… in biomedical research, National Institute of Health (NIH) leaders are calling for the scientific community to … data and its appropriate use in biomedical research. Major NIH efforts are also underway to enhance representation of … NIH leaders call for a consensus on use of race and ethnicity …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… Investigators with the National Institutes of Health (NIH) have discovered the genomic switches of a blood cell are … paper, John J. O'Shea, M.D., is the scientific director at NIH's National Institute of Arthritis and Musculoskeletal and … was performed in collaboration with investigators led by NIH Director, Francis S. Collins, M.D., Ph.D., in the Medical …
Staff
Dr. James Thomas is the acting director for the NIH Intramural Sequencing Center (NISC).
… Dr. James Thomas is the director of the NIH Intramural Sequencing Center. He oversees the importation … technologies, protocols and analyses, ensuring that NIH investigators have access to cutting-edge DNA sequencing … School of Medicine before returning to NHGRI and the NIH Intramural Sequencing Center in 2011.    …
News Release
NIH lost a key member of its broader genomics team when Robert Blakesley, Ph.D., director of the NISC sequencing group at NIH, retired on Dec. 31, 2015.
… the resulting data. The National Institutes of Health (NIH) will lose a key member of its broader genomics team with … Blakesley, Ph.D., director of the sequencing group at the NIH Intramural Sequencing Center (NISC) in Rockville, … National Human Genome Research Institute (NHGRI), part of NIH. "When I recruited him to NISC in 2000, I knew that we …
The Genomics Landscape
In the May 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details how NIH is ramping up research on COVID-19; NHGRI's expansion of its Genome Technology Program; and the the DiY Genome: Unlocking Life's Code exhibition toolkit.
…   In response to the current global pandemic, NIH is aggressively tackling the biomedical research … institutions around the country. For example, a number of NIH Institutes and Centers have issued funding opportunity … to make millions of tests per week available by the end of Summer 2020. NIH continues to issue news related to the …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
News Release
Four NIH grants will support research on the ethical, legal and social questions raised by genomics research advances and genomic information.
… found at www.genome.gov . National Institutes of Health (NIH) : NIH, the nation's medical research agency, includes 27 … of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting … NIH funds new studies on ethical, legal and social impact of …