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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 …
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 …
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. … and early death. Many infants and children with the cblC-deficiency form of the disease also experience vision loss, …
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 …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… Research points to the effects of nutrients in how DNA mutates in the mitochondria. … In a … make it harder to absorb vitamin B12, mimicking a vitamin deficiency. All the mice, however, were on strictly … in each sample. The researchers found that vitamin B12 deficiency increased the number of mutations in the …
Staff
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 … stroke and vasculopathy associated with mutations in ADA2 . N Engl J Med . 2014;307:907-916. … Biography … …
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 receptor …
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 … she should be evaluated for SCID or other types of immune deficiency syndromes: Eight or more ear infections Two or …
Staff
Dr. Ferreira is a staff clinician in the Medical Genomics and Metabolic Genetics Branch and the head of the Skeletal Genomics Unit.
… Ferreira went to medical school at the National University of Asunción, completed an Internal Medicine residency at Rush … of FGF23 metabolism, my group currently studies ENPP1 deficiency, with an evolving interest in osteoglophonic dysplasia. ENPP1 deficiency is often fatal in early life due to cardiovascular …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
… 2021, Dr. Rossignol has been teaching the Inborn Errors of Metabolism course offered by the Foundation for Advanced … Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review … Rossignol F , Wang H, Ferreira C. Prolidase deficiency. 2015 Jun 25 [updated 2022 Jul 7]. In: Adam MP, …