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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 … called glucocerebroside cannot be adequately degraded. … Gaucher disease is an autosomal recessive inherited disorder of …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
Gaucher disease (GD) is a rare (autosomal recessive) genetic … and neurological manifestations seen in patients with Gaucher disease. The gene coding for the enzyme glucocerebrosidase is …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen … of Neuroscience . … "Until now, drugs used to treat Gaucher disease have not been able to enter the brain and …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… drug therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research … has successfully corrected the malfunctioning cells. … Gaucher disease is an inherited condition caused by …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … have been probing the connection between the rare Gaucher disease and the more common Parkinson's disease. While patients with Gaucher disease are at increased risk for Parkinson's …
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 … Genetics and Metabolism . … A single mutation in the Gaucher disease gene, GBA1, is frequently found in patients …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… includes both clinical and basic research aspects of Gaucher disease and Parkinson's disease, and her group first … in "simple" Mendelian disorders, the association between Gaucher disease and parkinsonism and the development of small …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the progressive loss of brain and …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease
Archive
… Undiagnosed Diseases Program (UDP) Discovers a New Disease … Archive …