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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. …
Jobs at NHGRI
NHGRI is seeking exceptional candidates for the position of Genetic Epidemiologist in the Division of Genomic Medicine (DGM). The division focuses on understanding how genomics contributes to human health and disease and how this knowledge can translate into improving the diagnosis, treatment, and prevention of disease.
… for the position of Genetic Epidemiologist, Division of Genomic Medicine (DGM). DGM focuses on understanding how genomics contributes to human health and disease and how this knowledge can … multi-disciplinary research to identify genetic contributions to human health and disease and use them to …
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 …
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 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 …
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 …
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 …
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 …
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 …