Search Results
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 … of FGF23 metabolism, my group currently studies ENPP1 deficiency, with an evolving interest in osteoglophonic dysplasia. ENPP1 deficiency is often fatal in early life due to cardiovascular …
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. … Severe Combined Immunodeficiency … on the X chromosome. Another form of SCID is caused by a deficiency of the enzyme adenosine deaminase (ADA), normally … she should be evaluated for SCID or other types of immune deficiency syndromes: Eight or more ear infections Two or …
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 …
Educational Resources
A birth defect is an abnormality present at birth.
… factors, prenatal events during pregnancy or a combination of both. Some birth defects are easy to see (such as an extra or missing finger), while others (such as an enzyme deficiency) are identified through special tests. … A birth …
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 …
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 …
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 ] …
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 …
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 …
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 …