Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Video
Divisions
Programs
- Ethical, Legal and Social Implications (ELSI) Research Program6
- 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 Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- 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
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, … tract from the mouth to the anus. The swelling and inflammation can go deeply into the lining of the bowel. This can be very painful and can cause diarrhea, abdominal pain, nausea and decreased …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… at the National Human Genome Research Institute (NHGRI) and their collaborators are studying the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… National Institutes of Health researchers have identified and tested a molecule that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… biologists, clinicians, bioinformatics specialists and others to provide expert advice on the future of its … the status and opportunities surrounding the discovery of variants conferring risk for common disease. He said that one … and conditions are the epitome of personalized medicine." Genomic Medicine NHGRI supports several genomic medicine …
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 … involuntary movements, severe emotional disturbance and cognitive decline. … Huntington's disease (HD) is an … involuntary movements, severe emotional disturbance and cognitive decline. In the United States alone, about …
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.
… major issues that are on the minds of genome scientists and those interested in the biomedical applications of … to direct the program today. With the goal of improving disease management for individual patients and advancing … robust clinical evaluations, the UDP employs cutting-edge genomic analyses, such as scans for single-nucleotide …
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 … from the UDN turned to Reddit - a social news website and discussion forum - to answer questions from the Reddit … as part of an "Ask Me Anything" (AMA). … Clinical and research experts from the Undiagnosed Diseases Network …
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 … years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually regresses, and is eventually unable to crawl, turn over, sit or reach …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … … among African Americans. About one in 12 African Americans and about one in 100 Hispanic Americans carry the sickle cell … cells with normal hemoglobin (hemoglobin-A) are smooth and round and glide through blood vessels. In people with …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through systemic inflammation, manifesting as painful oral and genital ulcers, as well as vision destroying inflammation … due to pathogen exposure, along with a mix of genetic and environmental risk factors, but their interaction is …