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News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… Institute and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in … images and clinical information of diverse people with Williams-Beuren Syndrome to the atlas , healthcare providers …
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 … Res . 30(3):339-352. 2017. [ PubMed ] Chandler RJ, Williams IM, Gibson AL, Davidson CD, Incao AA, Hubbard BT, …
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… His group described the natural history of Lowe syndrome, alkaptonuria, autosomal recessive polycystic kidney … disease, GNE myopathy, and Hermansky-Pudlak syndrome (HPS), a disorder of oculocutaneous albinism, … His lab discovered the genetic bases of gray platelet syndrome, Hartnup disease, arterial calcification due to …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… Velocardiofacial syndrome is the most common syndrome associated with a cleft palate. … Velocardiofacial syndrome (VCFS) is a genetic condition that is sometimes …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome (DS) is a miswiring of the eye muscles, causing some … Other names for this condition include: Duane's Retraction Syndrome (or DR syndrome), Eye Retraction Syndrome, …
Staff
Christopher Williams, Ph.D. is the lead education outreach specialist in NHGRI's Education and Community Involvement Branch.
… Christopher Williams, Ph.D. … Christopher Williams is the Lead Education Outreach Specialist for the … High School in Baltimore, MD. … Biography … Christopher Williams, Ph.D. … Christopher Williams, Ph.D. is the lead …
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… Syndrome … A syndrome is a collection of recognizable traits or … and are associated with a specific disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of traits or …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… Down syndrome is a chromosomal condition related to chromosome 21. … 800 to 1 in 1000 live born infants. … People who have Down syndrome have learning difficulties, mental disability, a … muscle tone (hypotonia) in infancy. Individuals with Down syndrome also have an increased risk for having heart …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene. … Fragile X syndrome is the most common form of inherited intellectual … racial and ethnic groups. Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 …