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News Release
Researchers have now identified three health conditions for which people with SCT are at increased risk.
… conditions for which people with SCT are at increased risk. … The First Comprehensive Review They include pulmonary embolism , proteinuria and chronic kidney disease . Findings from this first comprehensive review of … for pulmonary embolism, proteinuria and chronic kidney disease. They also found a moderate level of evidence of …
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 … glucocerebroside cannot be adequately degraded. … Gaucher disease is an autosomal recessive inherited disorder of … Gaucher disease and Gaucher carriers have an increased risk of developing Parkinson disease and related disorders. … …
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 … make up for it and that causes a condition or an increased risk of developing a condition. Each time we have a child we …
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 … in post-menopausal, obese women of middle age. … Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome … pain that can be severe and sometimes debilitating. Dercum disease is a chronic condition, meaning that it is a long …
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 … with new immune therapies. … There appears to be a risk for inheriting Crohn's disease, especially in families …
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 … People with even one mutated copy of GBA1 are at higher risk of developing Parkinson's disease, a common disorder …
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 … disturbance and cognitive decline. … Huntington's disease (HD) is an inherited neurological illness causing … about careers, marriage and families. Some who are at risk choose not to take the test. They choose to live with …
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 … and Metabolism . … A single mutation in the Gaucher disease gene, GBA1, is frequently found in patients who have …
Staff
Dr. Rene Sterling is a program director in NHGRI's Division of Genomics and Society.
… Electronic Medical Records and Genomics (eMERGE) Genomic Risk Assessment and Management Network. Dr. Sterling has over … … Rene Sterling, ELSI Research Program, eMERGE Genomic Risk Assessment and Management Network … Dr. Rene Sterling is …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through systemic … exposure, along with a mix of genetic and environmental risk factors, but their interaction is poorly understood. … …