Electronic records pin broad set of health risks on genetic premutation

It was long believed the FMR1 premutation — an excessive number of trinucleotide repeats in the FMR1 gene — had no direct effect on the people who carry it. Until recently, the only recognized effect on the carriers of the flawed gene was the risk of having offspring with fragile X syndrome, a rare but serious form of developmental disability.

Cell component breakdown suggests possible treatment for multiple neural disorders

UW-Madison research published today (Feb. 11, 2019) reveals how one mutation causes fragile X, the most common inherited intellectual disability. “Fragile X syndrome has been studied as a model of intellectual disability because in theory it’s comparatively simple,” says senior author Xinyu Zhao, a professor of neuroscience in the Waisman Center at the University of Wisconsin–Madison.

How speaking is a lot like playing darts

Winning a game of darts requires being accurate. A player who can pick a spot on the board, focus their mind, and execute the specific motor action needed to land the bullseye will win the game. And if they miss, well, practice makes perfect.

Connecting research and clinics to help those with autism

One of the goals of the study is to discover how genetic variations in young people with ASD are related to brain changes that lead to clinical symptoms of the disorder, such as impaired social interaction and repetitive behaviors.

“If you think about it, in between genes and clinical symptoms [of ASD] are changes in brain development,” says Lainhart. “Genes first impact brain development, and as a result of changes in how the brain develops, there are clinical manifestations of what we recognize as ASD.”