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Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… a clinical researcher in the Inflammatory Disease Section of the Medical Genetics Branch at the National Human Genome … decipher the complex and potentially devastating disease, deficiency of adenosine deaminase 2. She has also worked in conjuncture …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… Combined Immunodeficiency is a severe, genetic condition of the immune system. … Severe Combined Immunodeficiency … on the X chromosome. Another form of SCID is caused by a deficiency of the enzyme adenosine deaminase (ADA), normally produced by a gene on …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… M.D. … Dr. Stone attended medical school at the University of Florida College of Medicine. She completed her pediatrics … in the discovery of the genetic etiology of DADA2 (deficiency of ADA2), DIRA (deficiency of the interleukin … D , Jones A, et al. Treatment strategies for deficiency of adenosine deaminase 2 . N Engl J Med . 2019 Apr …
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 … recessively-inherited disorder is now termed DIRA, the deficiency of the IL-1 receptor antagonist. More recently, … recessive loss-of-function mutations in the gene encoding adenosine deaminase 2 (ADA2) in patients with early-onset …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… his B.S. in biology from the Massachusetts Institute of Technology in 1972 and his M.D. from the University of … syndrome, Hartnup disease, arterial calcification due to deficiency of CD73, 3-methylglutaconic aciduria type III, 3 … and the associated calcification-inhibiting pathway of adenosine signaling in vascular endothelial cells. The group …
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 … of the defective enzyme within the metabolic pathway and (2) whether or not there is any functional enzyme or co-factor …
News Release
NHGRI researchers have identified a genomic signature for some aggressive prostate tumors, which may help healthcare providers pinpoint treatment options.
… collaborators have identified a specific genomic signature of some aggressive prostate tumors, which may help health … team is now exploring the molecular signature of BRCA2 -deficiency in prostate tumors from least to most aggressive. … determine how many non-aggressive tumors have the BRCA2 -deficiency mutation signature. They plan to test whether the …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… designed to help manage patients with rare inborn errors of metabolism (IEMs), and can help prevent serious and … disorders of organic acid metabolism, results from a deficiency of enzymes involved in amino acid metabolism. … patient participants in this study, ranging in age from 2 to 27 years. A subset of nine participants received medical …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… The porphyrias are a group of different diseases, each caused by a specific abnormality … on which enzyme is deficient. Porphyria results in a deficiency or inactivity of a specific enzyme in the heme … and possibly smoking, combine to cause an enzyme deficiency in the liver. Hemochromatosis, an iron overload …
Educational Resources
A birth defect is an abnormality present at birth.
… factors, prenatal events during pregnancy or a combination of both. Some birth defects are easy to see (such as an extra or missing finger), while others (such as an enzyme deficiency) are identified through special tests. … A birth …