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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.
… 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 …
News Release
NHGRI convened geneticists, biologists, clinicians, bioinformatics specialists and more to provide expert advice on the future of its Genome Sequencing Program.
… Steven Benowitz … On July 28-29, 2014, the National Human Genome Research Institute (NHGRI) convened geneticists, … biologists, clinicians, bioinformatics specialists and others to provide expert advice on the future of its … the status and opportunities surrounding the discovery of variants conferring risk for common disease. He said that one …
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 … 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 … to direct the program today. With the goal of improving disease management for individual patients and advancing …
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 … 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 … 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. … … among African Americans. About one in 12 African Americans and about one in 100 Hispanic Americans carry the sickle cell … cells with normal hemoglobin (hemoglobin-A) are smooth and round and glide through blood vessels. In people with …
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 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.
… Green, M.D., Ph.D. … 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 … and the field of genomics. …  The International Common Disease Alliance (ICDA) was recently established as a forum …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… Prabarna Ganguly, Ph.D. … Genomic variants that cause common periodic fever have spread in … study, carried out by scientists at the National Human Genome Research Institute (NHGRI), part of the National … research was provided by the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis …