Search Results
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… initially launched in 1994 to identify the genetic cause of familial Mediterranean fever (FMF). Since then, it has … expanded to include several novel and undiagnosed causes of autoinflammatory disease. For more information, see … Autoinflammatory diseases are a group of disorders characterized by seemingly unprovoked episodes …
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. Manfred Boehm is a an adjunct investigator for the Office of the Clinical Director at NHGRI.
… Manfred Boehm received his M.D. in 1993 from the University of Heidelberg, Germany, and did his residency in internal … Medicine, Berlin, from 1996 to 1997, and the University of Michigan, Ann Arbor, from 1997 to 1999. He joined the … and book chapters. He serves on the editorial boards of Trends in Cardiovascular Medicine , ISRN Stem Cells , …
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 …
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. … your cells are. The nutrients inside your food create some of the most important molecules in your cells. Scientists are … make it harder to absorb vitamin B12, mimicking a vitamin deficiency. All the mice, however, were on strictly …
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 … co-principal investigator for a multicenter clinical trial of ManNAc (a precursor of sialic acid) in GNE myopathy; and an associate … Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review …