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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 - also known as Adiposis Dolorosa, Anders' syndrome and Dercum-Vitaut syndrome - is a rare condition that is characterized by … This syndrome consists of four cardinal symptoms: (1) multiple, … autoimmune disorder (a condition that occurs when the body's immune system attacks normal, healthy body tissue). …
Educational Resources
Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, Developmental Disorder …
News Release
SJS/TEN is a severe drug reactions that affect the skin, and one of the most severe of adverse reactions affecting any system in the body
… soon by a rare genetic condition known as Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN). SJS/TEN is the … and prevention strategies." At NHGRI, Dr. Manolio's team supports research to help medical practitioners bring … such as SJS/TEN, that might have saved Angela Anderson's life. "Doctors believe [Angela's SJS/TEN] was triggered by …
Educational Resources
Polydactyly is a condition in which a person has more than the normal number of fingers or toes.
… Autosomal Dominant, Dominant, Birth Defect, Mutation, Syndrome …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… three genes believed to be associated with long QT syndrome … world had previously reported 17 genes to cause long QT syndrome, a little-known inherited heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has critically reevaluated the …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… which is also known as Hutchinson-Gilford progeria syndrome, is caused by a mutation in the nuclear lamin A  … and their families cannot be overstated," said Francis S. Collins, M.D., Ph.D., a senior investigator in NHGRI's Medical Genomics and Metabolic Genetics Branch, NIH …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… Dr. William Pavan received his B.S. in animal science from the University of Massachusetts, … develop paradigms for therapeutic interventions. Dr. Pavan's group first discovered the neural crest cell transcription … factor SOX10 , which is associated with Waardenburg Syndrome IV and with human melanoma, and also identified the …
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 … and biliary system. Both men and women can have Crohn's disease. It can also run in families. About 20 percent (1 …
News Release
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch.
… Laura Koehly, Ph.D., newly appointed chief of NHGRI's Social and Behavioral Research Branch. Credit: Ernesto Del … to have scientific outcomes that are stronger than what's possible in siloed labs. Our research focuses on bringing … on the psychosocial impact of genetic testing for Lynch Syndrome-associated cancer . The genes associated with Lynch …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… rare premature-aging disease, Hutchinson Gilford Progeria Syndrome (HGPS). Two of those treatment strategies are in the … for therapeutic development. Hutchinson-Gilford Progeria Syndrome In the ultra-rare premature aging disorder HGPS, Dr. … with HGPS, conducted by collaborators at Boston Children’s Hospital. That trial showed improvement in arterial …