Search Results
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 …
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 … opportunities for increasing implementation of host genomic information in clinical care of infectious diseases …
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, … Crohn's disease, an idiopathic (of unknown cause), chronic … 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 …
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 … Huntington's disease (HD) 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 …
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 disease. The new resource will enable scientists to examine … journals. These efforts provide new insights into how genomic variants - inherited spelling differences in the DNA …
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 be sure to sign up for email updates  and monitor the 'Genomics … robust clinical evaluations, the UDP employs cutting-edge genomic analyses, such as scans for single-nucleotide …
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 … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … 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 …
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. … Sickle cell disease is the most common inherited blood disorder in the United States. … chromosome 11. Hemoglobin transports oxygen from the lungs to other parts of the body. Red blood cells with 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 … influences in the development of stroke and cardiovascular disease, and may also help lead to new treatment strategies.  …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness for rare diseases, experts from the UDN turned to Reddit - a social news website and discussion forum - to … the Undiagnosed Diseases Network (UDN) have joined forces to solve the most challenging medical mysteries. Supported by …