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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.
… shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen … Sidransky, M.D., a senior investigator with NIH's National Human Genome Research Institute (NHGRI), and her … at the NIH, an agency of the Department of Health and Human Services. The NHGRI Division of Intramural Research …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, … diagnosed in people between the ages of 20 - 30. … Crohn's disease, an idiopathic (of unknown cause), chronic … of bowel between inflamed areas). Complications of Crohn's disease include: blockage of the intestine; sores and ulcers …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Huntington's disease is an inherited neurological illness causing … 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. … …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… gene therapy. They conducted research on mice with a rare disease similar to one in humans, hoping their findings may … gene therapy for humans. Researchers at the National Human Genome Research Institute (NHGRI), part of NIH, … not insert where it would elevate the expression of nearby genes and it did not cause liver cancer. The researchers …
Talking Glossary
A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an increased risk for developing cancer
… have inherited mutations in certain cancer-susceptibility genes have a lifetime risk of cancer that is significantly …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… six UDN grants that will fund studies of the function of genes thought to play roles in particular patients' … Christine M. Eng, M.D., professor of molecular and human genetics and medical director of the DNA Diagnostic … variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… athletes and terriers are plucky supermodels. National Human Genome Research Institute (NHGRI) researchers reached this conclusion after identifying 59 genes or gene regions linked to canine athletics, including … it's difficult to identify gene variants' influence on human populations over time, NHGRI researchers turned to …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in … progressive destruction of the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … all have two copies of this gene. If either or both Hex-A genes are active, the body produces enough of the enzyme to …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… Sheena Faherty, Ph.D. … On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness … or cell biology, currently or potentially related to a human disease. - William Gahl The Reddit community was also … involves genome or exome sequencing to identify candidate genes that may be causing the patient's disease. Based on the …
Community Outreach
NHGRI is proud to help support the PBS documentary, “Ken Burns presents The Gene: An Intimate History,” based on the book by Siddhartha Mukherjee, M.D.
… The National Human Genome Research Institute is proud to help support the … the stunning breakthroughs in understanding the impact genes play on heredity, disease and behavior. … The Gene: An Intimate History … The …