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News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… assistance from a high tech robot, National Institutes of Health researchers have identified and tested a molecule … shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen … (NHGRI), and her collaborators at the National Institute of Neurological Disorders and Stroke (NINDS) and the National …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … disease phenotypes. … The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery for enough different …
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 … - to answer questions from the Reddit community as part of an "Ask Me Anything" (AMA). … Clinical and research …
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 progressive destruction of the nervous system. … Tay-Sachs disease (TSD) is a fatal … in children, that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of …
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. … … carry the sickle cell trait, which means they are carriers of the disease. Sickle cell disease is caused by a mutation …
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 … genital ulcers, as well as vision destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix of genetic and environmental risk factors, but their …
Fact Sheets
A knockout mouse is a laboratory mouse in which researchers have inactivated an existing gene by replacing it or disrupting it with an artificial piece of DNA.
… by replacing it or disrupting it with an artificial piece of DNA. … Knocking out the activity of a gene provides … therapies can be developed and tested. Many of these mouse models are named after the gene that has been inactivated. … means now available for studying gene function in a living animal. Such studies will accelerate efforts to translate …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function. … Huntington's Disease, Genetic … inherited disorder associated with the progressive loss of brain and muscle function. Symptoms usually develop during …
Talking Glossary
Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs.
… racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … in the 19th and early 20th centuries were proponents of such ideologies. By the mid-20th century, …
Talking Glossary
A gamete is a reproductive cell of an animal or plant.
… Gamete … A gamete is a reproductive cell of an animal or plant. … A gamete is a reproductive cell of an animal or plant. In animals, female gametes are called ova or …