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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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… health inequities. The Bonham group also studies sickle cell disease, a condition that will be impacted by emerging …
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 … down and recycles glucocerebroside - a normal part of the cell membrane. People who have Gaucher disease do not make … and spleen (hepatosplenomegaly), changes in red blood cell levels, easy bleeding and bruising from low platlets or …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… Although a role for genetics in the development of the disease has been supported, it is unclear whether this … the unique metabolic disturbances of kwashiorkor.   Sickle Cell Disease Alloimmunization  Sickle cell disease (SCD) is …
Educational Resources
Cancer is a group of diseases characterized by uncontrolled cell growth.
… is a group of diseases characterized by uncontrolled cell growth. … Cancer, Cell Division, Mutation, DNA Error, Metastasis, Tumor, Family Health History … Cancer is a disease in which some of the body’s cells grow …
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 … Our genetic material is stored in the center of every cell in our bodies (skin cells, hair cells, blood cells). …
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 … be done to: Check for anemia. Check for a high white blood cell count and sedimentation rate which are signs of swelling …
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 … associated with a hereditary or genetic disorder. … 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 …
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 …