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The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… the most recent 'polar vortex' becoming a distant memory and with baseball's spring training now in full swing, we … the completion of the Human Genome Project in 2003 and the discovery of DNA's double-helical structure in 1953. Watch the NHGRI DNA Day website for 2019 events and subscribe to the NHGRI DNA Day newsletter. Join in the …
Leadership Initiatives
NHGRI aims to ensure all populations are knowledgeable about and can participate in genomics research.
… Genome Research Institute (NHGRI) wants to ensure that all populations are knowledgeable about the science underpinning the Human Genome Project and genomics research, and have the opportunity to participate in various ways, such … 21st century, has changed the way medicine is practiced and how research is conducted in the future. It is important …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… with the National Human Genome Research Institute and their international collaborators have added … to the Atlas of Human Malformation Syndromes in Diverse Populations. … will better recognize and diagnose the rare disease in non-Europeans and deliver critical, early interventions and …
Event
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD.
… Human Genome Research Institute (NHGRI) sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. This meeting … as appropriate Variants and conditions to be screened for Populations to screen, including appropriate ages and other …
Event
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs. The purpose of these NOFOs is to implement and evaluate a pilot program of population genomic screening for common, actionable genomic conditions in a primary care setting.
… Welcome Overview of the Population Genomic Screening Discussion … NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021 , RFA-HG-24-022 , and RFA-HG-24-023 . The purpose of these NOFOs is to … Population Genomic Screening in Primary Care Pre-Application Webinar …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… anniversary of the completion of the Human Genome Project, and the 20th anniversary of National DNA Day. To commemorate … on National DNA Day, April 25, that highlighted relevant and interesting topics in genomics and concluded with the annual Louise M. Slaughter National …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Institutes of Health, have collaborated with physicians and medical geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health care providers can use the new atlas to … diseases by comparing physical traits (called phenotypes) and written descriptions of their symptoms with photos and …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… are associated with skin color variation in some African populations, opening new avenues for research on skin diseases and cancer in all populations. … hundred years have focused on analyzing differences among European populations. This study of ethnically diverse …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… the need to further explore initial findings in non-European populations. The Population Architecture using Genomics and … Chris Haiman, Ph.D., University of Southern California and Loic Le Marchand, M.D., Ph.D., University of Hawaii … Principal Investigators (PIs): Charles Kooperberg, Ph.D. and Ulrike Peters, Ph.D., Fred Hutchinson Cancer Research …
Policy Issues
NHGRI wants to ensure that all populations benefit from the advances of genomics research.
… advances of this research to benefit everyone more equally and improve health equity, it is important that the diversity … It is also necessary to understand ethical, legal and social issues including utilization of genomic information, access to genomic services, and how …