Search Results
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 levels of, or no, alpha-1 antitrypsin (AAT) in the blood. AATD …
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).
… National Institutes of Health (NIH) researchers have identified a treatment that … of stroke  in children with a rare genetic disease called DADA2 (deficiency of adenosine deaminase type 2). … (adenosine deaminase 2). This can lead to inflammation of the walls of the blood vessels, hindering blood flow to …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… National Institutes of Health researchers have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, … Israeli research group that identified an overlapping set of variants of the same gene in patients with a similar type …
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 … residency at Baylor, Dan moved to the National Institutes of Health (NIH) in 1985. He served as Scientific Director of the Division of Intramural Research of the National Human …
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
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… The Department of Health and Human Services (HHS) has awarded National Human … Investigator, NHGRI. Credit: Maggie Bartlett, NHGRI. One of the highest honors bestowed by HHS, the Career Achievement … basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or ACDC, as the team called it). UDP …
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 … Methylmalonic acidemia (MMA) 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 …
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. … 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 …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… Dr. Stone attended medical school at the University of Florida College of Medicine. She completed her pediatrics residency at the Children’s Hospital of Pittsburgh and fellowship in Clinical Genetics from the … in the discovery of the genetic etiology of DADA2 (deficiency of ADA2), DIRA (deficiency of the interleukin …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Dr. Daniel Kastner in the Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to … work as a post-doctoral fellow on the positional cloning of the gene mutated in patients with familial Mediterranean …