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News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… in a gene called UBA1 are associated with inflammatory diseases … some form of a chronic inflammatory disease. Many of these diseases have overlapping symptoms, which often make it … the genome sequences from more than 2,500 individuals with undiagnosed inflammatory diseases, paying particular …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… pathway that plays a major role in several common diseases. Together, their findings may provide new clues to … of stroke, cardiovascular disease and many other common diseases," said Stephen R. Williams, Ph.D., a postdoctoral … (NHGRI) Genomics and Randomized Trials Network (GARNET) program ( …
Event
Webinar to discuss NHGRI's support of a new Human Genome Reference Program beginning in fiscal year 2020.
… NHGRI will fund a new Human Genome Reference Program (HGRP) beginning in fiscal year 2020. The program will consist of a coordinating center, high quality … Human Genome Reference Program Webinar … to discuss NHGRI's support of a new Human Genome Reference Program beginning in fiscal year 2020. …
Research Funding
The Human Genome Reference Program (HGRP) maintains and updates the human genome reference and provides it to the scientific community.
… the genomics community. The NHGRI Human Genome Reference Program (HGRP) provides funding for efforts to maintain and … of the HGRP February 13, 2023 Human Genome Reference Program Planning Meeting October 13, 2022 Human Genome Reference Program Webinar March 8, 2019 Human Genome Reference Web …
Staff
Heather Colley is a Lead Research Training and Career Development Program Officer at the National Human Genome Research Institute.
… is the Lead Research Training and Career Development Program Officer at the National Human Genome Research … Consortium , IGNITE Consortium , and the NIH Common Fund Undiagnosed Diseases Network . Her research interests focus on ensuring … implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA , 106(23):9362-7. …
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… research and health care. Some of the successes of this program, which culminated in 2014, are described in Nature : … Genome.” The history and achievements of the $1,000 Genome Program, which was led by Dr. Jeffery Schloss , as the Sequencing Technology Development Program Director at NHGRI, are further highlighted below. …
Event
NHGRI, National Institute of Environmental Health Sciences (NIEHS) and National Cancer Institute (NCI) will host a pre-application interactive webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs): RFA-HG-22-008,
RFA-HG-22-009 and RFA-HG-22-010.
… Welcome and Participation Guidelines — Erin Ramos Program Overview — Joannella Morales Background and Rationale … webinar for the Multi-Omics for Health and Disease program funding opportunity announcements (FOAs). NIH program staff will provide an overview of the three FOAs, the …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… by the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the Center for Research on Genomics and Global …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
… — should be enormously valuable as he leads this program.” I am particularly enthusiastic about both the depth … — should be enormously valuable as he leads this program. NHGRI has one of the most extensive genomics … benefit the field. He will work with other NHGRI training program leaders like Melissa Merideth, M.D., M.P.H. of the …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… manifestations associated with Gaucher disease. Diseases. 2;5(1). pii: E10. doi: 10.3390/diseases5010010. …