Search Results
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… of Health (NIH), clinical researchers at the National Human Genome Research Institute (NHGRI) are leading a new era … to better understand of how genes can cause or influence diseases and develop new and more effective diagnostics and … Mutation, Gene Variation, DNA Sequencing, Clinical Trials, Human Research Subjects … NHGRI researchers work with …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute and their international … have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. … By … Syndrome in Diverse Populations . … Diagnosing Rare Diseases … Related Content … Williams-Beuren syndrome added …
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… Steven Benowitz … Researchers analyzing human, fly, and worm genomes have found that these species … and other biological processes vital to understanding human biology and disease. … The studies highlight the data … in chromatin because of its potential connection to some diseases, such as cancer. A number of studies have shown that …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… as plot points for television dramas. The Undiagnosed Diseases Program (UDP) was conceived by Dr. William Gahl … Dr. Stephen Groft (then Director of the NIH Office of Rare Diseases, now part of the National Center for Advancing … FY 2018 Transition from Inclusion Management System to New Human Subjects System (HSS) as of June 9, 2018 Ruth L. …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.
… understanding of Mendelian inheritance were early foci of human genetics that naturally emphasized family-based studies … including societal and structural factors, influencing diseases and traits? What does this mean for understanding human biology as universal and for the generation of other …
News Release
The Human Genome Project has been awarded the 2017 Prince Mahidol Award for ground-breaking advances in the field of medicine.
… Sheena Faherty, Ph.D. … The Human Genome Project has been awarded the 2017 Prince Mahidol … by Eric Green, M.D., Ph.D., director of the National Human Genome Research Institute (NHGRI), part of the National … the causes, treatments and cures for both common and rare diseases. For more information about NIH and its programs, …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … director for the UDN and an epidemiologist in the National Human Genome Research Institute's Division of Genomic … https://commonfund.nih.gov/Diseases . About the National Human Genome Research Institute (NHGRI): NHGRI is the driving …
News Release
Researchers have now identified and catalogued more species - nearly 200 new bacteria and thousands of viruses - that reside on the human skin than has ever been possible, largely due to advances in bioinformatics and laboratory techniques.
… identified and catalogued more species that reside on the human skin than has ever been possible, largely due to … these previously unknown species are the most abundant on human skin. The results appear in a new catalog, the Skin … Institute of Arthritis and Musculoskeletal and Skin Diseases participated in the collaborative study. According …