genetic conditions

A new role for a gene that’s associated with autism spectrum disorder, intellectual disability and language impairment is revealed in a new study led by UCLA. “This discovery really broadens the scope of where we think Foxp1 is important. And this gives us an expanded way of thinking about how its mutation affects patients,” said… Read more

People with a genetic predisposition to risky alcohol behavior are less likely to drink frequently, become intoxicated often, or suffer from alcohol dependence symptoms if they are in a romantic relationship, according to a new study led by a Virginia Commonwealth University researcher. “We found that the effect of genetic risk for alcohol use was… Read more

People who had their appendix removed early in life had a lower risk of developing Parkinson’s disease decades later, researchers report. The finding represents a new clue that the tremor-inducing brain disease may get its start not in the brain but in the gut. A peek at surgically removed appendix tissue shows this tiny organ… Read more

Halfway up a hill overlooking the Great Rift Valley in western Kenya are two graves. One of them is a few years old now, bristling with bushy shrubs stretching bright green leaves towards a cloudless sky. The other is a freshly dug bed of rough red dirt planted with a white wooden cross. They are… Read more

Cortical hyperexcitability, protein instability, and haploinsufficiency are disease mechanisms underlying the disorder STXBP1 encephalopathy with epilepsy, new research from a group in the Netherlands indicates. STXBP1 encephalopathy with epilepsy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability, including autism spectrum disorders. It is caused by mutations in the… Read more