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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 …
Intramural Training Office
In NIH's annual Three-Minute Talks (TmT) competition, postbaccalaureate researchers, graduate students, and postdoctoral fellows from each institute’s intramural research program have to describe their research clearly and engagingly in just three minutes using one PowerPoint slide. The competition challenges trainees to develop their communication skills as they explain the background, key findings, and significance of their work.
… Lily Barna Postbaccalaureate Fellow, Gunter Lab … A tale of three transporters: Exploring vitamin B12 deficiency using zebrafish Tara Desporte Postbaccalaureate … coaching. These sessions touch on various aspects of effective presentations, including content, clarity, …
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 …
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
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 was 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 …