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Staff
Heather Colley is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute. ​
… Development Programs, NHGRI GWAS Catalog, and the NIH Common Fund Undiagnosed Diseases Network. Her research … the diversity of the biomedical workforce and leveraging genomics to improve human health. Ms. Colley received her … F, Hindorff LA, MacArthur JAL. A standardized framework for representation of ancestry data in genomics studies, with …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… a molecule that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen Sidransky, M.D., a senior … July 12, 2016 NHGRI is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… or protect against the disease. The NIH awarded grants for using innovative new technologies and computational … $24 million over four years, go to eight academic medical centers that have been at the forefront of research in … that affect not only specific families, but that may be common to specific ethnic groups. (NIA grant U01AG049507)   …
News Release
The Genetics/Genomics Competency Center (G2C2) resource has been expanded to include a new collection of resources for physicians.
… John Daniels … The Genetics/Genomics Competency Center (G2C2) - www.g-2-c-2.org - is a free, online collection of materials for use in the classroom and for self-directed learning in … Identifying microbial contributors to human health and disease using genomic information. Physicians' societies, …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's … copper. Many foods contain copper, and it is important for people to have a small amount of copper in the body. … can lead to organ damage that may cause death. Other names for Wilson disease include copper storage disease, …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … and each has a wide range of symptoms. Type 1 is the most common, does not affect the nervous system and may appear … of laboratory test involves DNA analysis of the GBA gene for the four most common GBA mutations. Both enzyme and DNA …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes … In most cases the other copy of the gene makes up for the one that does not work properly and we are healthy. A … able to identify genetic variations that contribute to common diseases including Parkinson's disease. … In most …
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 … epilepsy, confusion and dementia. The pain can last for hours, can be paroxysmal (occurring only at certain …
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.
… collaborators are studying the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by … Sidransky's lab, analyzed more than 200 individual mice for as long as two years. Also contributing to the study were …
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.
… Eric Green, M.D., Ph.D. … As is likely the case for many of your organizations, NHGRI and NIH are starting to … the strong participation of universities and research centers throughout the United States, the United Kingdom, … Genomics Research NIH researchers uncover genes linked to common recurrent fever in children How the genetic code was …