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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, 2024, NHGRI and NIAID co-sponsored the 16th Genomic Medicine meeting, Genomic Medicine XVI: Host Genomics and Infectious Disease, in Bethesda MD.
… The objectives of the meeting were 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 …
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 …
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 … 75,000 people carry the abnormal gene that will cause them to develop the disease. There is no cure for this fatal … gene, the repeat occurs over and over again, from 40 times to more than 80. This defect causes the resulting huntingtin …
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 …
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.
… will take place in Stanford, California, on July 17, 2018. To stay informed about our strategic planning events, please … robust clinical evaluations, the UDP employs cutting-edge genomic analyses, such as scans for single-nucleotide … Diseases Network (UDN)  was established by the NIH Common Fund. Growing out of the revolutionary work of the …
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 … brain. This ongoing accumulation causes progressive damage to the cells. In children, the destructive process begins in … The infant gradually regresses, and is eventually unable to crawl, turn over, sit or reach out. Eventually, the child …