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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 … Gaucher disease is an autosomal recessive inherited disorder of … down and recycles glucocerebroside - a normal part of the cell membrane. People who have Gaucher disease do not make enough glucocerbrosidase. This causes the …
Educational Resources
Cancer is a group of diseases characterized by uncontrolled cell growth.
… Cancer is a group of diseases characterized by uncontrolled cell growth. … Cancer, Cell Division, Mutation, DNA Error, Metastasis, Tumor, Family … different types of cancer, and each begins when a single cell acquires a genomic change (or mutation) that allows the …
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 … 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 … times) or continuous, and worsens with movement. Dercum disease is often associated with generalized weakness, …
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, … Crohn's disease, an idiopathic (of unknown cause), chronic … of bowel between inflamed areas). Complications of Crohn's disease include: blockage of the intestine; sores and ulcers …
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 … so that it can still function. In the patients' stem cell-derived neurons, NCGC607 reversed the lipid accumulation …
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 … GBA1 protein, so that it can still function. In stem cell-derived neurons made from samples from patients with …
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 … of California (UC) at Irvine, successfully prevented cell death in a Drosophila fruit fly model that carries the …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… Cell-Free DNA Testing … Cell-free DNA testing is a laboratory method that involves … Cell-free DNA testing is a laboratory method that involves … a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used during … DNA that is naturally present in the maternal bloodstream. Cell-free DNA testing is also used for the detection and …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
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… not had access to genomics. The Bonham group also studies sickle cell disease, a condition impacted by emerging curative genomic … of these findings. The Bonham group also studies sickle cell trait and sickle cell disease, a condition that affects … K.H., Green C., Bonham V.L. Jr., Haywood C. Jr., Ivy E. Sickle cell disease related pain: crisis and conflict. …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … fetus early in pregnancy. However, a baby with Tay-Sachs disease appears normal until about six months of age when its … five. A much rarer form of Tay-Sachs, Late-Onset Tay-Sachs disease, affects adults and causes neurological and …