Search Results
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… a CLIA-certified laboratory for autoinflammatory disease diagnostics in the IDS. Her scientific … used genetic and genomic approaches to understand human inflammatory diseases and to advance the molecular diagnosis … activator of IL-1b, that cause neonatal-onset multisystem inflammatory disease (NOMID), an autoinflammatory disease …
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 … normal part of the cell membrane. People who have Gaucher disease do not make enough glucocerbrosidase. This causes 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 … 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
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 … We found the gene that caused their inherited Parkinson's Disease and it coded for a protein called alpha-synuclein. If …
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. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… M.D. … Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of the Medical Genetics Branch at the … As an associate research physician, she leads the Inflammatory Disease Section’s clinical team overseeing the …
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 … Neuroscience . … "Until now, drugs used to treat Gaucher disease have not been able to enter the brain and reach those …
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 … the abnormal gene that will cause them to develop the disease. There is no cure for this fatal disease. A single …
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 … variant discovery for enough different examples of disease architectures and study designs to better understand …
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 … progressive destruction of the nervous system. … 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 …