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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
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 …
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.
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, …
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
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 …
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 …