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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).
… Jeannine Mjoseth … National Institutes of Health (NIH) researchers have identified a treatment that …   in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type 2).  … The disease results when a …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… in 1973 and a Ph.D. and M.D. from Baylor College of Medicine by 1982. After completing Internal Medicine … disorders, including phospholipase Cγ2-associated antibody deficiency and immune dysregulation (PLAID), a separate … denoted APLAID (autoinflammatory PLAID), the deficiency of adenosine deaminase type 2 (DADA2), haploinsufficiency of A20 …
Genetic Disorders
Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood.
… Alpha-1 antitrypsin deficiency is an inherited condition that causes low levels of, or no, alpha-1 antitrypsin in the blood. … Alpha-1 … (AAT) in the blood. AATD occurs in approximately 1 in 2,500 individuals. This condition is found in all ethnic …
Archive
… Rapid, New Test Developed for Inherited Immune Deficiency … Archive …
Archive
… NIH researchers link enzyme deficiency with faulty DNA replication and cancer … Archive …
Educational Resources
Mitochondria are membrane-bound cell organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell's biochemical reactions.
… organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell's biochemical … … Mitochondria, Mitochondrial DNA, Cell Biology, Adenosine Triphosphate, ATP … Mitochondria are membrane-bound … organelles (mitochondrion, singular) that generate most of the chemical energy needed to power the cell's biochemical …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… Raymond MacDougall … National Institutes of Health researchers have identified gene variants that … of the gene's ability to produce of an enzyme called adenosine deaminase 2 (ADA2). Without it, abnormalities and … walls result. The researchers call the new syndrome, deficiency of ADA2, or DADA2. The enzyme ADA2 is chemically …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… with rare and undiagnosed diseases. … The Department of Health and Human Services (HHS) has awarded National Human … basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or ACDC, as the team called it). UDP … Diseases Network (UDN), Arterial Calcification due to Deficiency of CD73 (ACDC) … Dr. Gahl honored for his leading …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… Methylmalonic acidemia refers to a group of inherited disorders in which the body is unable to process … a buildup of methylmalonic acid in the body. Vitamin B12 deficiency states that are not due to genetic causes, such as … isolated MMA, where only methylmalonic acid is elevated 2) patients with combined defects who also have increased …
Staff
Dr. Goldbach-Mansky is an adjunct investigator in NHGRI's Medical Genetics Branch
… approach to clinical and immunological descriptions of of autoinflammatory diseases, including a recently … multisystem inflammatory disease (NOMID) and deficiency of the IL-1 receptor antagonist (DIRA), have … onset; diagnostic and prognostic value. Arthritis Res , 2 (3): 236-243. 2000. [ PubMed ] Aksentijevich I, Nowak M, …