Search Results
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 … influenza in a mouse model of ornithine transcarbamylase deficiency. Dis Model Mech , 7:205-213 . 2014. [ PubMed ] Tan … P.J. A new mouse model of ornithine transcarbamylase deficiency (spf-j) displays cerebral amino acid perturbations …
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 …
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
… Nicholas Singh-Miller Building a phenotype for ALPK3 loss-of-function mutation heterozygotes: Leveraging PheWAS to … phenotyping studies PB4459 Natalie Deuitch Evaluation of hereditary predispositions to hematologic malignancy in … PB4499 Sarah Silverstein RNAseq driven diagnosis of NBAS deficiency expands the phenotypic spectrum of disease. PB3464 …
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 … Session F 379. Madeline Arnold: A mouse model of cbIC deficiency displays reduced survival, growth retardation, and … W. Epping: A Knock-out Mouse Model of CMAMMA (Acsf3 Deficiency) Displays Neurological Phenotype and Methylmalonic …
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 …
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.
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… various genetic metabolic disorders, with the hope of developing treatments for these illnesses. Her research … kinase, which in turn leads to sialic acid deficiency. Without adequate supplies of sialic acid, … patients with hypopigmentation and platelet storage-pool deficiency. Am J Hum Genet , 69:1022-1032. 2001. [ PubMed ] …
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, … in MMA, and a new treatment approach for cobalamin C deficiency. They have delineated the neurocognitive phenotype …
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 … recessively-inherited disorder is now termed DIRA, the deficiency of the IL-1 receptor antagonist. More recently, … mutations in the gene encoding adenosine deaminase 2 (ADA2) in patients with early-onset stroke, vasculopathy, and …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art genetic and genomic technologies to study the genomes of humans and other organisms and disease mechanisms. … The … to develop clinical trials for gene therapy of immune deficiency and preclinical development of gene therapy for …