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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 antitrypsin deficiency (AATD) is an inherited condition that causes low …
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, …
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 … gene hampers a person's ability to produce the enzyme ADA2 (adenosine deaminase 2). This can lead to inflammation …
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 … to produce of an enzyme called adenosine deaminase 2 (ADA2). Without it, abnormalities and inflammation in blood … walls result. The researchers call the new syndrome, deficiency of ADA2, or DADA2. The enzyme ADA2 is chemically …
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 … stroke and vasculopathy associated with mutations in ADA2. N Engl J Med,  370:911-920. 2014. [ PubMed ] Ombrello …
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 vitamin B12 deficiency, can also cause methylmalonic acid to build up in …
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 …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… Metabolism is a sequence of chemical reactions that take place in cells in the body. … 1 (CPS1) is not working, the IEM is called "CPS1 deficiency". A list of broad categories of IEM and some … Examples Urea cycle disorders Ornithine transcarbamylase deficiency, citrullinemia, argininosuccinic aciduria, …
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, X-linked Autoinflammatory …