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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 …
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 … 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 …
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 …
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 ] …
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 …
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 …
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 …
Educational Resources
X-linked, as related to genetics, refers to characteristics or traits that are influenced by genes on the X chromosome.
… Linked, X Chromosome, Y Chromosome, Phenotype, Fragile X Syndrome, Trait …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… of development and overgrowth such as Pallister-Hall syndrome, McKusick-Kaufman syndrome and Proteus syndrome. He initiated ClinSeq® , a large-scale medical … Medical Genomics and Metabolic Genetics Branch, Proteus syndrome, ClinSeq …