In a breakthrough study, scientists have discovered that a variant in one gene, GRIN2A, can directly cause mental illness – something previously believed to be the result of several mutations working ...

The order of cancer-driving mutations—genetic changes—plays an important role in whether tumors in the intestine can develop, ...

A closeup look at colibactin’s structure reveals chemical motifs that guide its mutation-wreaking “warheads” to specific stretches of DNA.

Worldwide, only a handful of patients are known to suffer from episodic ataxia type 6, a neurological disease that causes transient loss of muscle control. The cause lies in a mutation that changes a ...

Close gatherings over the Thanksgiving holiday could cause an uptick in emergency room visits in NY due to a trio of ...

(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 ...

Throughout our lives, new cells often replace the ones that become damaged or worn out. As cells divide, they have to replicate the genome and properly distribute the copies to two new cells. We know ...

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 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 ...

In 2014, two siblings came to see Lena Kilander about some of the problems they’d started having. Like many of the people referred to the Memory Disorder Unit at Sweden’s Uppsala University Hospital, ...

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 ...