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 … TNF Receptor Associated Periodic Fever Syndrome (TRAPS) Deficiency of Adenosine Deaminase 2 (DADA2) VEXAS (Vacuoles, E1 ligase, X-linked Autoinflammatory …
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. 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 … stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 370(10):911-20. 2014. [ PubMed ] Cooley …
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. … 1 (CPS1) is not working, the IEM is called "CPS1 deficiency". A list of broad categories of IEM and some … Examples Urea cycle disorders Ornithine transcarbamylase deficiency, citrullinemia, argininosuccinic aciduria, …
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 …
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. 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, …