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 … 2018, he worked as an attending physician in the Division of Genetics and Metabolism at Children's National Medical Center. In 2019, he became an appointee of the Physician-Scientist Development Program at NHGRI. Dr. …
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. … without a working immune system. Caused by defects in any of several possible genes, SCID makes those affected highly … bacteria and fungi. Because David's brother had died of the disease, doctors immediately placed him into a plastic …
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 … in biochemical genetics from the American College of Medical Genetics and Genzyme. After completing his … In 2010, Dr. McGuire moved to the National Institutes of Health (NIH) to join the Physician Scientist Development …
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. …
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 NHGRI Staff in Attendance More than 6,500 scientific … Session F 379. Madeline Arnold: A mouse model of cbIC deficiency displays reduced survival, growth retardation, and …
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 focuses on disorders of sialic acid metabolism and of lysosome-related organelles. … kinase, which in turn leads to sialic acid deficiency. Without adequate supplies of sialic acid, …
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 bowel, involves any region of the gastrointestinal …
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 … new area for vaccine developers to explore in search of that gold. … but there was no question about its significance. TCF1 deficiency causes "a severe defect" in the TFH cell response …
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. … to develop clinical trials for gene therapy of immune deficiency and preclinical development of gene therapy for …