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Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Genetics Branch. Throughout his career at the NIH Dan’s research has focused on using genetic and genomic … informed our understanding of more common illnesses. Dan’s group also proposed the now widely accepted overarching concept of autoinflammatory disease to denote disorders of the evolutionarily ancient …
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 body to store too much of the mineral copper. Over time, … about one in 30,000 people. Wilson disease causes a person's body to store too much of the mineral copper. Many foods …
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 … However it is often not possible to predict the patient's clinical course based upon DNA testing. … Enzyme … Neurogenetics Section. Information about Dr. Sidransky's research on Gaucher disease can be found at …
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 … autoimmune disorder (a condition that occurs when the body's immune system attacks normal, healthy body tissue). … dominant trait (this means that one out of a person's two copies of the gene, inherited from one parent, is …
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 tremor and/or stiffness in movement … Parkinson's disease (PD) is a neurological condition that typically …
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, … diagnosed in people between the ages of 20 - 30. … Crohn's disease, an idiopathic (of unknown cause), chronic …
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 … GBA1, is frequently found in patients who have Parkinson's disease, a neurodegenerative movement disorder. Individuals …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. Ellen Sidransky, M.D., a senior investigator with NIH's National Human Genome Research Institute (NHGRI), and her …
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 … emotional disturbance and cognitive decline. … Huntington's disease (HD) is an inherited neurological illness causing …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… The Centers for Common Disease Genomics (CCDG) are a collaborative large-scale … and protective variants contributing to multiple common disease phenotypes. … The CCDG initiative explores a range of … stroke), neuropsychiatric diseases (autism, Alzheimer's disease, epilepsy), and immune-mediated diseases (irritable …