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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, … Diseases Network , had unusual and unclassified disorders. “Our objective was to see if any of the 2,560 …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… in the DNA sequence away from the normal sequence. Genetic disorders can be caused by a mutation in one gene (monogenic … forms of neurofibromatosis. … Overview … List of Genetic Disorders … Featured Content … Genetic Disorders … A list of genetic, orphan and rare diseases under …
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 … molecular basis, pathophysiology and treatment of human inflammatory diseases. A referral clinic established at the … 1,700 patients with known or currently uncharacterized inflammatory illnesses-the largest such cohort in the United …
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' … in this protein has not been previously linked to clinical disorders of the human immune system," said Ivona …
Educational Resources
Autosomal dominance is a pattern of inheritance characteristic of some genetic diseases.
… is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is …
Talking Glossary
Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders.
… is a pattern of inheritance characteristic of some genetic disorders. … Autosomal recessive is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is … is a pattern of inheritance characteristic of some genetic disorders. … Talking Glossary …
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).
… 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 … for an unknown reason. … Benefits of the Treatment … Anti-inflammatory drug halts strokes in children with rare disease …
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, usually diagnosed in … Crohn's disease, an idiopathic (of unknown cause), chronic inflammatory disorder of the bowel, involves any region of … diagnosed in people between the ages of 20 - 30. … Genetic Disorders
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 … … CRGGH joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. ​ … Branch Chief …