Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Video
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. 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 … focus on three major areas: 1) Saul-Wilson syndrome; 2) disorders of FGF23 metabolism; and 3) disorders of … of FGF23 metabolism, my group currently studies ENPP1 deficiency, with an evolving interest in osteoglophonic …
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, …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… and equivalent with an M.D.) from the Royal College of Surgeons in Ireland. After completing a combined residency … activation on end-organ mitochondrial metabolism; and 2) the role of mitochondria in immune cell function. Immune … influenza in a mouse model of ornithine transcarbamylase deficiency. Dis Model Mech , 7:205-213 . 2014. [ PubMed ] Tan …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… institute's diverse portfolio at the 65th annual meeting of the American Society of Human Genetics (ASHG). … Dozens of … topic): Platform Presentations Wednesday, Oct. 7, 2015, 2:30-4:30 p.m. Concurrent Platform Session A 9. Danielle M. … Session F 379. Madeline Arnold: A mouse model of cbIC deficiency displays reduced survival, growth retardation, and …
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… The gold standard for a successful vaccine is the creation of long-lasting antibodies that will defend the body against … but there was no question about its significance. TCF1 deficiency causes "a severe defect" in the TFH cell response … produce sufficient antibodies--is linked to primary immune deficiency in many people. On the other hand, in autoimmune …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Poster Presentations  Presenter Title Board # November 2, 2023, 3:00 - 5:00 p.m. Nicholas Singh-Miller Building a phenotype for ALPK3 loss-of-function mutation heterozygotes: Leveraging PheWAS to … PB4499 Sarah Silverstein RNAseq driven diagnosis of NBAS deficiency expands the phenotypic spectrum of disease. PB3464 …
Genetic Disorders
Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30.
… Crohn's disease is a chronic inflammatory disorder of the bowel, usually diagnosed in people between the ages of 20 - 30. … Crohn's disease, an idiopathic (of unknown cause), chronic inflammatory disorder of the …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
​
… various genetic metabolic disorders, with the hope of developing treatments for these illnesses. Her research … the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase, which in turn leads to sialic acid deficiency. Without adequate supplies of sialic acid, …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… Venditti received a S.B. from the Massachusetts Institute of Technology in 1988 and was an M.D., Ph.D. scholarship … can be seen in many common conditions, such as vitamin B12 deficiency, stroke syndromes, pancreatic dysfunction, … discover and characterize novel patient phenotypes. Figure 2: Growth and phenotypic correction after AAV8-mMut gene …