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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… to use that knowledge to reduce the burden of neurological disease. About the National Institutes of Health (NIH): NIH, …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… Sickle Cell Disease … Sickle cell disease is a hereditary disease seen most often among people of African ancestry. … …
News Release
CMG investigators have made significant inroads in discovering genes underlying Mendelian conditions and have uncovered 470 new, previously unknown conditions.
… genomic causes for only about half. Individually, a rare disease may affect only a handful of families. Collectively, … the program's progress and the breadth of Mendelian gene discovery to date. The authors also ruminated on the lessons … more separate conditions. "Sometimes a gene mutation or a variant causes one disease, whereas a different mutation in …
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.
… to direct the program today. With the goal of improving disease management for individual patients and advancing … basic researchers to identify the underlying mechanisms of disease. Training clinicians in the use of contemporary … New Evidence that Viruses May Play a Role in Alzheimer's Disease Novel Drug Therapy Partially Restores Hearing in Mice …
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.
… New disease could provide insights into how the cell’s recycling … in which researchers identified a genetic neurological disease among Lagotto Romagnolo dogs, an Italian breed known … scientists had yet to connect ATG4D to any neurological disease in humans. “Among genetic diseases, we’ve solved many …
Culture
Work with a talented team, including world-class scientists at NHGRI. Share genomics and its discoveries with the community and the world.
… build you career and help bring the fruits of genomic discovery to people's lives. … At NHGRI, we make possible the … answering questions about how our DNA shapes health and disease. Our discoveries have changed the way researchers … within a learning organization centered on scientific discovery. As a part of the larger NIH community, you will …
For Teachers
The genetic timeline lesson plan gives students an historical perspective of the discoveries that led to our present understanding of the human genome.
… scientific process of using supporting evidence from one discovery to verify findings of another. Relate the …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… to find genetic variations associated with a particular disease. … A genome-wide association study is an approach … to find genetic variations associated with a particular disease. Once new genetic associations are identified, … Expression, Gene Variation, Personalized Medicine, Gene Variant … Genome-wide association studies involve scanning …
Outreach
National DNA Day commemorates the successful completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953.
… the completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. … National DNA … completion of the Human Genome Project in 2003 and the discovery of DNA's double helix in 1953. The National Human … the completion of the human genome project in 2003 and the discovery of the double helix in 1953. DNA Day’s mission …
News Release
National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care.
… NHGRI researchers identified a person with a genomic variant associated with a known metabolic disorder. Further … researchers and their collaborators found that a genomic variant was associated with immune dysfunction at the … and the National Institute of Allergy and Infectious Disease (NIAID) Centralized Sequencing Protocol, which …