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News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children. … in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Contributing to the work were …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI … Scientific Synergies … Related Content … CRGGH joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease …
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch (MCIDGB) studies the genomic and … individual- and population-level approaches. The center's scientists develop genetic epidemiology models that explore …
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 inflammatory disorder of the bowel, involves any region of …
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 … researchers from Dan Kastner, M.D. Ph.D.'s group in the Inflammatory Disease Section of the Division of Intramural …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … research updates at the February 27 event. In NHGRI's Medical Genetics Branch , for example, Ellen Sidransky, … only nine people in the world. Called ACDC, this adult-onset condition is associated with progressive and painful …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United … systems (See: Learning About Cystic Fibrosis ); Huntington's disease, which affects the brain and nervous system (See: …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… how mutations in a gene called UBA1  are associated with inflammatory diseases … Researchers from the National … Journal of Medicine . Nearly 125 million people in the U.S. live with some form of a chronic inflammatory disease. Many of these diseases have overlapping symptoms, …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… trying to find the root cause for their family member's rare disorder. It is difficult to overstate the relief that … identification of at least 15 other children with the same disease, and the establishment of the NGLY1 Foundation  to support research about the disease and pursue possible treatments. In 2015, Matt was one …