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News Release
SJS/TEN is a severe drug reactions that affect the skin, and one of the most severe of adverse reactions affecting any system in the body
… Epidermal Necrolysis (SJS/TEN). SJS/TEN is the severest of adverse drug reactions that affect the skin, and one of the most severe of adverse reactions affecting any system in the body. It …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease. The work was funded by the National Human …
Educational Resources
Polydactyly is a condition in which a person has more than the normal number of fingers or toes.
… in which a person has more than the normal number of fingers or toes. … Autosomal Dominant, Dominant, Birth … in which a person has more than the normal number of fingers or toes. It can occur in association with other … in which a person has more than the normal number of fingers or toes. … Educational Resources …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… used a DNA-editing technique to extend the lifespan of mice with the genetic variation associated with progeria, … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health; Broad Institute of Harvard and MIT, Boston; and …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… her Ph.D. in Human Genetics from the Medical College of Virginia (now called Virginia Commonwealth University) in … thesis was "Biochemical and Immunological Characterization of Serum Biotinidase in Normal and Biotinidase-deficient … with Larry Tabak, D.D.S., Ph.D., at the University of Rochester. Her first faculty position was at Eastman …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Diana W. Bianchi, M.D., is the director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development and head of the Prenatal Genomics and Therapy Section for the Medical …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… received his B.S. in animal science from the University of Massachusetts, Amherst, and his Ph.D. in physiology from the Johns Hopkins School of Medicine, Baltimore. He completed his post-doctoral fellowship in the laboratory of Shirley Tilghman, Ph.D., at Princeton University where he …
News Release
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch.
… Mjoseth … Laura Koehly, Ph.D., has been named chief of the Social and Behavioral Research Branch (SBRB) in the … at the National Human Research Institute (NHGRI), part of the National Institutes of Health. Dr. Koehly is the second chief to lead SBRB since …
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. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… focuses on translational research determining the effect of genetic variation on gene function and identifying primary … development. Prior to arriving at the National Institutes of Health, Dr. Erdos studied circulating thymic peptides … focused initially on the discovery and functional analysis of the BRCA1 gene. Currently, Dr. Erdos conducts preclinical …