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News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… Steven Benowitz … Teams of scientists will use support from the National Institutes … 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 …
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 …
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 … tumors) that occur chiefly in post-menopausal, obese women of middle age. However, although it is 20 times more common …
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 movement. The condition affects about 1 to 2 percent of people over the age of 60 years and the chance of developing PD increases as we …
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 …
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 . … A single mutation …
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 … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
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 …
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 … the HD gene on chromosome 4. The gene codes for production of a protein called "huntingtin," whose function is still unknown. But the defective version of the gene has excessive repeats of a three-base sequence, …
Secondary Genomics Finding Service
The SGFS can support annotation of up to 2000 exomes/genomes per year on a first-come, first-served basis.
… Genomics Finding Service (SGFS) can support annotation of up to 2000 exomes/genomes per year on a first-come, first-served basis. The SGFS is open to any Intramural Investigator and … service to facilitate annotation and return of secondary genomic findings as part of the research enterprise Kalia et …