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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 … … CRGGH joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … CRGGH is now part of …
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 … 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 inflammatory disorder of the bowel, involves any region of …
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 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.
… 1β (IL-1β), cause a devastating disorder known as NOMID (neonatal-onset multisystem inflammatory disease), and that the gene mutated …
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 … resulting in strokes. The treatment works by blocking the inflammatory effects of a protein - tumor necrosis factor … significant improvement in laboratory studies such as inflammatory markers, iron and red blood cell counts. They …
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 through … researchers from Dan Kastner, M.D. Ph.D.'s group in the Inflammatory Disease Section of the Division of Intramural … single changes in DNA that correlate with autoimmune and inflammatory diseases. They found novel DNA changes that are …
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 …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… a PYRIN domain-containing activator of IL-1b, that cause neonatal-onset multisystem inflammatory disease (NOMID), an autoinflammatory …