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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
… soon by a rare genetic condition known as Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis (SJS/TEN). SJS/TEN is the … victim to the fatal genetic condition, Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis, or SJS/TEN. Photo … many more such variants and understand how they cause the syndrome so we can develop effective treatment and prevention …
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.
… three genes believed to be associated with long QT syndrome … Geneticists and heart specialists around the world had previously reported 17 genes to cause long QT syndrome, a little-known inherited heart condition. However, … as having limited or disputed evidence for causing the syndrome. Their results were published in Circulation , the …
Educational Resources
Polydactyly is a condition in which a person has more than the normal number of fingers or toes.
… … Autosomal Dominant, Dominant, Birth Defect, Mutation, Syndrome … Polydactyly is a condition in which a person has …
News Release
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… which is also known as Hutchinson-Gilford progeria syndrome, is caused by a mutation in the nuclear lamin A  … DNA-editing, CRISPR, progeria, Hutchinson-Gilford progeria syndrome, base editing … Using a recently developed DNA …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… established a multidisciplinary clinic for Prader-Willi syndrome. She then joined the faculty at the University of … as an isolated inherited condition, as part of a genetic syndrome, or as a side effect of certain medications. Dr. … forms of gum overgrowth, such as Zimmerman-Laband syndrome and juvenile hyaline fibromatosis, as well as gum …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… factor SOX10 , which is associated with Waardenburg Syndrome IV and with human melanoma, and also identified the … disease and melanocyte deficiencies of Waardenburg (WS) syndrome. Subsequently, germline SOX10 mutations were … modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res , 9(3): 215-225. 1999. [ PubMed ] …
News Release
Laura Koehly, Ph.D., has been named chief of NHGRI's Social and Behavioral Research Branch.
… on the psychosocial impact of genetic testing for Lynch Syndrome-associated cancer . The genes associated with Lynch syndrome had just been discovered. "Jill was working on a … as they say, is history." People with identified Lynch syndrome mutations were waiting a long time before informing …
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, Inflammatory Disorder, Irritable Bowel Syndrome, Abdominal Pain, Bowel Disorder … Crohn's disease is …
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
… rare premature-aging disease, Hutchinson Gilford Progeria Syndrome (HGPS). Two of those treatment strategies are in the … for therapeutic development. Hutchinson-Gilford Progeria Syndrome In the ultra-rare premature aging disorder HGPS, Dr. … Adenine Base Editing Rescues Hutchinson-Gilford Progeria Syndrome . Nature . 2021 Jan;589(7843):608-614. doi: …
Educational Resources
The Y chromosome is one of the two sex chromosomes that are involved in sex determination.
… Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait … The Y chromosome is one of the two sex …