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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
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… Sidransky, M.D., a senior investigator with NIH's National Human Genome Research Institute (NHGRI), and her … could be widely available to treat people with these diseases. However, there's a long distance between … at the NIH, an agency of the Department of Health and Human Services. The NHGRI Division of Intramural Research …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… have implanted fetal tissue in rodents and non-human primates to better understand how to restore or replace … trials for treating cancer in humans. This could speed up human trials of the drug in Huntington's disease patients. … …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… phenotypes. … The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery for … genomic architecture underlying common, complex inherited diseases. Understand how best to design rare variant studies … research community. The CCDGs study cardiovascular diseases (early-onset cardiovascular disease, atrial …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Researchers used bioengineering to create mice with a human gene that produces the defective hemoglobin causing … "corrected" by the addition of the anti-sickling human beta-hemoglobin gene. The corrected marrow was then … are hopeful that the techniques can be applied to human gene transplantation using autologous transplantation, …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social … … Clinical and research experts from the Undiagnosed Diseases Network (UDN) have joined forces to solve the most … or cell biology, currently or potentially related to a human disease. - William Gahl The Reddit community was also …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… in DNA that correlate with autoimmune and inflammatory diseases. They found novel DNA changes that are correlated … Institute of Arthritis and Musculoskeletal and Skin Diseases Last Updated: February 7, 2017 … Novel Changes … …
News Release
NIH is establishing the Multi-Omics for Health and Disease Consortium, with approximately $11 million awarded in the consortium’s first year of funding. The new consortium aims to advance the generation and analysis of “multi-omic” data for human health research.
… the generation and analysis of “multi-omic” data for human health research. Multi-omics refers to a research … the molecular factors and cellular processes involved in human health and disease, including untangling genetic and … drug targets. “Beyond gaining insights into individual diseases, the primary goal of this consortium is to develop …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… them establish why some people are susceptible to various diseases. … Powerful Clues for Disease Susceptibility While … in addition to new methods of prevention. The National Human Genome Research Institute (NHGRI), part of the National … investigators identified about 88 million sites in the human genome that vary among people, establishing a database …