Search Results
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 … In 2010, she moved to Bethesda, Maryland in pursuit of research experience. Having aligned herself with Dr. Dan Kastner at the National Institutes of Health, she has focused her research in the field of …
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 … where she then continued as a Senior Staff Fellow for 2 years. In 2007, she joined Dr. Daniel Kastner’s group that … in the discovery of the genetic etiology of DADA2 (deficiency of ADA2), DIRA (deficiency of the interleukin …
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. … without a working immune system. Caused by defects in any of several possible genes, SCID makes those affected highly … bacteria and fungi. Because David's brother had died of the disease, doctors immediately placed him into a plastic …
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 …
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 types of HPS, and neutropenia due to VPS45 deficiency. He has published more than 450 peer-reviewed …
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. These reactions are responsible for the breakdown of nutrients and the generation of energy in our bodies. Inborn errors of metabolism (IEM) … 1 (CPS1) is not working, the IEM is called "CPS1 deficiency". A list of broad categories of IEM and some …
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.
… A tale of three transporters: Exploring vitamin B12 deficiency using … coaching. These sessions touch on various aspects of effective presentations, including content, clarity, … explain the background, key findings, and significance of their work. … explain the background, key findings, and significance of their work. …
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 … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH). … 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 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 …