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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 … we discovered might be the most comprehensive way to identify a specific subgroup of prostate cancer tumors … team is now exploring the molecular signature of BRCA2 -deficiency in prostate tumors from least to most aggressive. …
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 … topic and why they think it’s cool in just three minutes. To help refine their research stories, participants attend an …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… Steven Benowitz … Many "medical foods" are 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. …
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 … The essential functions of heme depend on its ability to bind oxygen. Heme is incorporated into hemoglobin, a … on which enzyme is deficient. Porphyria results in a deficiency or inactivity of a specific enzyme in the heme …
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 …
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 … Center and Saint Louis University. In 2010, she moved to Bethesda, Maryland in pursuit of research experience. … decipher the complex and potentially devastating disease, deficiency of adenosine deaminase 2. She has also worked in …
Educational Resources
Congenital conditions are those present from birth.
… Newborn Screening, Genetics, Pregnancy … Congenital refers to a condition or trait that exists at birth. Congenital … occurring during pregnancy or at birth, or they may be due to a combination of these factors. … Congenital conditions are those present …
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 … pyoderma gangrenosum, and acne), a condition difficult to treat in some severely affected individuals. She …
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 … of unknown etiology and collaborates with scientists to identify new conditions or expand the phenotypic … Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… genital ulcers, as well as vision destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix of genetic and …