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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.
… Researchers at the National Human Genome Research Institute (NHGRI) and their collaborators are studying the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by … by enlargement of the spleen, frequent bleeding and bruising, and weakened bones. Researchers have found it …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… National Institutes of Health researchers have identified and tested a molecule that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen … M.D., a senior investigator with NIH's National Human Genome Research Institute (NHGRI), and her collaborators at …
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 … involuntary movements, severe emotional disturbance and cognitive decline. … Huntington's disease (HD) is an inherited neurological illness causing … involuntary movements, severe emotional disturbance and cognitive decline. In the United States alone, about …
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.
… some of the major issues that are on the minds of genome scientists and those interested in the biomedical applications of … events, please be sure to sign up for email updates  and monitor the 'Genomics 2020' calendar . All the best, … The Genome: Unlocking Life's Code  exhibition is currently …
News Release
Scientists from the 1000 Genomes Project Consortium has created the world's largest catalog of genomic differences among humans.
… While most differences in peoples' genomes - called variants - are harmless, some are beneficial, while others contribute to diseases and conditions, ranging from cognitive disabilities to … addition to new methods of prevention. The National Human Genome Research Institute (NHGRI), part of the National …
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 … from the UDN turned to Reddit - a social news website and discussion forum - to answer questions from the Reddit … mysteries. Supported by the NIH Common Fund , UDN uses genome sequencing in the clinic, along with a network of …
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 … years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually regresses, and is eventually unable to crawl, turn over, sit or reach …
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 … among African Americans. About one in 12 African Americans and about one in 100 Hispanic Americans carry the sickle cell …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Behçet's disease is a disease that destroys blood vessels through systemic inflammation, manifesting as painful oral and genital ulcers, as well as vision destroying inflammation … due to pathogen exposure, along with a mix of genetic and environmental risk factors, but their interaction is …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… To productively use a long, blank (and boring) hallway near my office in Building 31 on the NIH … a graphical display illustrating the scale of human genome sequence. The wall is now enhanced with a representation of ~1/1000th of the human genome sequence – specifically, about 3 million G’s, A’s, …