Search Results
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 metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately … Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called …
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 … tumors that occur chiefly in post-menopausal, obese women of middle age. … Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome … tumors) that occur chiefly in post-menopausal, obese women of middle age. However, although it is 20 times more common …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… Teams of scientists will use support from the National Institutes of Health to conduct research into the genetic underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical … participants free of the disorder. They also will study genomic data from 111 large families, a portion of which are …
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, usually diagnosed in people between the ages of 20 - 30. … Crohn's disease, an idiopathic (of unknown cause), chronic … The symptoms of Crohn's disease include: Abdominal pain, often in the …
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.
… the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by … cross-breeding mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 issue of M olecular Genetics and Metabolism . …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… With 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 …
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 … the HD gene on chromosome 4. The gene codes for production of a protein called "huntingtin," whose function is still …
Research Funding
The primary mission of the Alliance of Genome Resources (the Alliance) is to develop and maintain sustainable genome information resources that facilitate the use of diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This understanding is fundamental for advancing genome biology research and for translating human genome data into clinical utility.
… The primary mission of the Alliance of Genome Resources (Alliance), Model … diverse model organisms in understanding the genetic and genomic basis of human biology, health and disease. This … Consortium resources serve as well-curated authoritative genomic compendia of diverse model organism annotations to …
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.
… That event was extremely helpful in revealing some of the major issues that are on the minds of genome scientists and those interested in the biomedical applications of genomics. The next 'Genomics 2020' Town Hall will take … A summary of NHGRI's first strategic planning Town Hall, held via …