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Autism is a developmental brain disorder characterized by impaired social interactions, communication problems, and repetitive behaviors.
… behaviors. … Autism Spectrum Disorders, Asperger Syndrome, Rett Syndrome, ASD, Developmental Disorder … Autism is a condition …
News Release
NIH awarded grants to six medical centers to select from the most difficult-to-solve medical cases and develop effective approaches to diagnose them.
News Release
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… disease and many other common diseases," said Stephen R. Williams, Ph.D., a postdoctoral fellow at the University of … Center for Public Health Genomics, Charlottesville. Dr. Williams, Michele Sale, Ph.D., associate professor of … goals were to break down the risk factors for stroke," Dr. Williams said. The researchers focused on one particular …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
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
… 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 …