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- 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
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.
… collaborators are studying the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to carry human mutations causing each of the two diseases. …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper. Over time, the extra copper can lead to organ damage that may cause death. … Wilson disease is a …
News Release
More research must be done to understand the interactions of ancient genes with modern environments.
… mutations that have evolved over thousands of years to protect Africans from disease-causing pathogens. … Today, … in the colonies, resulting in a wide range of genetic contributions to different groups of people. The average … Project, the first comprehensive characterization of genomic diversity across sub-Saharan Africa. The study, which …
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… have created a new and much-anticipated data resource to help establish how differences in an individual's genomic make-up can affect gene activity and contribute to … about 900 deceased donors. GTEx is supported by the NIH Common Fund and administered by the National Human Genome …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease is a rare condition that is characterized by … women of middle age. However, although it is 20 times more common in women, 16 percent of the reported cases are males … primarily on the trunk region and on the extremities close to the trunk. Unlike ordinary lipomas, there is also pain …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen Sidransky, M.D., a senior … in The Journal of Neuroscience . … "Until now, drugs used to treat Gaucher disease have not been able to enter the … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
Event
On December 12-13, NHGRI and NIAID will sponsor the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… The objectives of the meeting are to: Define currently available approaches for using host genomic information in the diagnosis, prevention, and … Genomic Medicine meeting, Host Genomics and Infectious Disease: Opportunities for Implementing Genomic Medicine , in …
The Genomics Landscape
In the July 2020 edition of The Genomics Landscape, NHGRI Director Eric Green recalls the White House event announcing the draft human genome sequence.
… for many of your organizations, NHGRI and NIH are starting to bring some of our staff back to the physical workplace. … (ACMG) recently published guidance on incorporating genomic data into electronic health records (EHRs). EHRs are … Genomics Research NIH researchers uncover genes linked to common recurrent fever in children How the genetic code was …
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, … any region of the gastrointestinal tract from the mouth to the anus. The swelling and inflammation can go deeply into … and decreased appetite. The inflammatory process tends to be eccentric and segmental, often with skip areas (normal …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new … metabolic pathway that plays a major role in several common diseases. Together, their findings may provide new … study, researchers scan the genome to identify specific genomic variants associated with a disease. In this case, the …