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News Release
An online Informed Consent Resource created in 2009 by NHGRI has been updated to keep pace with advances in genomics over the past several years
… sequencing technologies become increasingly affordable, genomics research is playing an ever-larger role across … (DPCE), at the National Human Genome Research Institute (NHGRI). "As genomics research extends throughout biomedical … Informed and voluntary agreement to participate in genomics research is fundamental from an ethical and legal …
The Genomics Landscape
In the November 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, celebrates the 30th anniversary of the NHGRI Intramural Research Program as well as announces the launch of a new digital history archive.
… (GBC) — a group of research funders that includes NHGRI on behalf of NIH — is working to understand the global biodata resource ecosystem in an effort to facilitate data-resource sustainability. The … work on the life-threatening inflammatory disorder VEXAS (short for vacuoles, E1 enzyme, X-linked, autoinflammatory and …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
… growth. It is the most common form of disproportionate short stature. It occurs in one in every 15,000 to one in 40,000 live births. … … bone growth that causes the following clinical symptoms: short stature with disproportionately short arms and legs, …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… followed over time to understand the symptoms and clinical course of GNE myopathy. This information is essential to … of daily living. GNE Myopathy results from variants in a gene called GNE , which is responsible for a step in the … Speakers Series Presenter: Marjan Huizing, Ph.D., NHGRI, NIH. Disorders of Sialic Acid Synthesis: Pathway and …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… address to the entering class at Spelman College in Atlanta, Georgia. Since most of the students in attendance … for life science and biomedical research. Many of us at NHGRI are gearing up for the American Society of Human … the best, … Genome-wide detection of somatic mosaicism at short tandem repeats Sehgal, et al. Bioinformatics, August …
About Genomics
The History of Genomics Program collects and organizes historic materials related to the field of genomics and NHGRI as an organization.
… NHGRI has launched a publicly available and … artifacts from the Human Genome Project and other major genomics efforts. To receive more information about gaining … research, challenges and successes and some fun memories in a two-part video recorded in July 2023. … The History of …
The Genomics Landscape
In the October 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., introduces us to new scientific director Charles Rotimi, Ph.D., his background and prior accomplishments.
… passage of a new budget this fiscal year. The CR allows NHGRI to continue to function and perform most of our normal … to bring to your attention a spectacular recent feature in Science that describes the remarkable work of NHGRI’s … backgrounds will benefit equitably from advances in human genomics. Speakers: Robert Winn, M.D., Virginia Commonwealth …
The Genomics Landscape
In the May 5, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., pays tribute to one of NHGRI’s founding staff members and current leaders, Bettie Graham, Ph.D., as she reached a truly remarkable milestone: 50 years of service in the federal government.
… your summer plans — and if you happen to find yourself in the D.C. area — I would encourage you to visit the Genome: … Natural History. As described in the December issue of The Genomics Landscape , the exhibition debuted at the … GenomeTV starting at 11:30 a.m. ET to hear updates about NHGRI and genomics research more broadly. The first hour of …
The Genomics Landscape
In the August 2019 edition of The Genomics Landscape, NHGRI Director Eric Green recognizes the recipients for the Presidential Early Career Award for Scientists and Engineers (PECASE), the highest honor given by the U.S. Government to outstanding scientists and engineers who are beginning their independent research careers.
… I recently had the opportunity to highlight the progress in genomics over the last three decades – from the early years … field that is increasingly relevant to peoples’ lives. NHGRI strives to be at the forefront of efforts to engage and …
News Release
NHGRI has created a new publicly available digital archive and search aid for accessing documents related to the Human Genome Project and the history of genomics.
… paper materials created or preserved during his tenure as NHGRI director from 1993 to 2008. “We recognized the … years after the completion of the Human Genome Project in 2003, his full collection also includes numerous assets … and video recordings of events that shaped not only the course of the Human Genome Project but genomics and …