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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 …
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 …
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 …
Talking Glossary
Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs.
… racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … in the 19th and early 20th centuries were proponents of such ideologies. By the mid-20th century, …
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 …
Educational Resources
Hemophilia is an inherited disease, most commonly affecting males, that is characterized by a deficiency in blood clotting.
… most commonly affecting males, that is characterized by a deficiency in blood clotting. … Hemophilia, Blood Clotting, X … most commonly affecting males, that is characterized by a deficiency in blood clotting. The responsible gene is located … on the X chromosome, and since males inherit only one copy of the X chromosome, if that chromosome carries the mutated …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… initially launched in 1994 to identify the genetic cause of familial Mediterranean fever (FMF). Since then, it has … TNF Receptor Associated Periodic Fever Syndrome (TRAPS) Deficiency of Adenosine Deaminase 2 (DADA2) VEXAS (Vacuoles, E1 ligase, …