University of Queensland researchers have found that a genetic mutation that causes melanoma can lie dormant in healthy skin, ...

Scientists have identified mutations in the CPD gene as a key cause of a rare congenital hearing loss, revealing how ...

A Northwestern Medicine-led study has identified mutations in the gene CEP76 as a new cause of ciliopathies, shedding light on a complex group of disorders that affect multiple body systems, according ...

A cause of death has been revealed for Sophia Farmer, a 17-year-old Illinois girl who fell unconscious during a wisdom teeth ...

(SALT LAKE CITY)--A gene mutation associated with a rare sleep disorder surprisingly also contributes to debilitating migraines, a new study led by University of Utah researchers shows. The discovery ...

Months after a teen girl died after undergoing a dental procedure in a Chicago suburb, her cause of death has been released.

Scientists looking to understand the fundamental brain mechanisms of autism spectrum disorder have found that a gene mutation known to be associated with the disorder causes an overstimulation of ...

Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a form of a genetic disease known as ...

Scientists have shown that defects in the protein CAPRIN1 are the cause of various neurological impairments. These new insights were made possible by exome analyses, in which scientists observe which ...

Researchers at Memorial Sloan Kettering Cancer Center (MSK) have developed some of the first robust laboratory models of a ...

(SALT LAKE CITY)—A 30-year-old woman with a history of upper respiratory infections had no idea she carried an immunodeficiency disorder – until her 6-year-old son was diagnosed with the same illness.

A Spring Grove girl’s who died after a dental visit in July suffered from complications of a dental extraction surgery, the ...