Search Results
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 …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
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 …
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. …
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 …
Event
On May 1–2, 2018, the National Human Genome Research Institute (NHGRI) sponsored this NHGRI workshop in Silver Spring, Maryland.
… The National Human Genome Research Institute (NHGRI) sponsored the NHGRI … workshop, Revisiting the Missing Heritability of Complex Diseases, Ten Years On , in Silver Spring, Maryland, on May … Silver Spring, Maryland. … On May 1–2, 2018, the National Human Genome Research Institute (NHGRI) sponsored this NHGRI …
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 …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… in npj Genomic Medicine . Scientists from NIH’s National Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three children with the … dysfunctional proteins. However, three other genes in the human genome serve very similar roles to ATG4D, and in some …
About Genomics
A group of researchers, led by the Human Pangenome Reference Consortium, has released a high-quality collection of human genome reference sequences, which together comprise a human “pangenome” reference. Encompassing genome sequences from 47 people of diverse ancestries (with the goal of increasing that number to 350 by mid-2024), the human pangenome reference captures significantly more population diversity than the previous reference sequence.
… The NHGRI-funded Human Pangenome Reference Consortium has released a high-quality collection of human genome reference sequences, which together comprise a … more diverse human genome offers hope for rare genetic diseases CNN : Scientists have updated the human genome to …