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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. They have also identified anti-inflammatory treatments that ease some of the patients' … just-discovered otulipenia is a rare and sometimes lethal inflammatory disease that causes fever, skin rashes, diarrhea …
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). … CRGGH joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. ​ …
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 … geography (e.g., diabetes, hypertension, heart and kidney disease, scleroderma and podoconiosis). MCIDGB researchers … molecular basis, pathophysiology and treatment of human inflammatory diseases. A referral clinic established at 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 … abdominal pain, nausea and decreased appetite. The inflammatory process tends to be eccentric and segmental, … The symptoms of Crohn's disease include: Abdominal pain, often in the lower right …
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 … National Institutes of Health (NIH) have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, … in the U.S. live with some form of a chronic inflammatory disease. Many of these diseases have overlapping symptoms, …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… widely accepted overarching concept of autoinflammatory disease to denote disorders of the evolutionarily ancient … For almost 30 years the focus of the Inflammatory Disease Section (IDS) has been the identification of genes … heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding …
News Release
NIH researchers have identified a treatment that significantly decreases the risk of stroke in children with a rare genetic disease called Deficiency of Adenosine Deaminase Type 2 (DADA2).
… the risk of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type … The disease results when a malfunctioning gene hampers a person's … resulting in strokes. The treatment works by blocking the inflammatory effects of a protein - tumor necrosis factor …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Behçet's disease is a disease that destroys blood vessels through systemic … destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix … researchers from Dan Kastner, M.D. Ph.D.'s group in the Inflammatory Disease Section of the Division of Intramural …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the … called pyrin. In healthy people, pyrin plays a role in the inflammatory response of the body. Pyrin is activated when … a staff scientist in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch. "The mutant pyrin may …
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 … a role in rare diseases. Such factors may directly cause disease, or interact with genetic factors to cause or increase the severity of disease. … (See: Learning About Cystic Fibrosis ); Huntington's disease, which affects the brain and nervous system (See: …