Lancaster University researchers have discovered, for the first time, how a genetic alteration that increases the risk of developing Autism and Tourette's impacts on the brain.
Autism affects an estimated 2.8 million people in the UK while Tourette's Syndrome - a condition that causes a person to make involuntary sounds and movements called tics -affects an estimated 300,000 people in the UK. The treatments available for both disorders are limited and new treatments are urgently required. Recent research has also shown that these disorders are genetically linked.
People with a genetic deletion known as chromosome 2p16.3 deletion often experience developmental delay and have learning difficulties. They are also around 15 times more likely to develop Autism and 20 times more likely to develop Tourette's Syndrome, but the mechanisms involved are not completely understood.
Using brain imaging studies, neuroscientists have shown that deletion of the gene impacted by 2p16.3 deletion (Neurexin1) impacts on the function of brain regions involved in both conditions. A key finding is that this genetic deletion disrupts a brain area known as the thalamus, compromising its ability to communicate with other brain areas.