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.

Machine learning can detect a genetic disorder from speech recordings

How much information can we extract from a five-minute recording of someone talking? Enough to tell whether that individual may be genetically predisposed to some health complications, according to researchers at the University of Wisconsin–Madison’s …

Motherhood and mental health: Exploring the links between anxiety, depression and fragile X premutations

Women who have a child with fragile X syndrome (FXS) and are themselves carriers of a “premutation” in the gene linked to FXS are at an increased risk of developing depression and certain kinds of anxiety disorders over time, according to a recent study by researchers at the Waisman Center and the University of South Carolina.