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.
Fragile X Syndrome
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.
Using artificial intelligence for a big impact on neurodevelopmental research
Arezoo Movaghar earned her master’s degree in computer science and artificial intelligence. She built models based on the plentiful data found in medical records. So, when she came to UW–Madison as a PhD student and joined a research group, it surprised Movaghar to find out just how much data researchers in other fields collect.
Study points researchers toward new therapies for fragile X syndrome
By Adityarup “Rup” Chakravorty New insights into the molecular machinations behind fragile X syndrome, the most common inherited intellectual disability, may help researchers develop potential therapies. Fragile X is a genetic condition that affects one …
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 …
Genetics and stress interact to shape human health and well-being
This is a story of nature and nurture. Scientists at the University of Wisconsin–Madison’s Waisman Center have shown one way in which human genetics and chronic stress interact to shape health and well-being later in …
Lighting up the search for a therapy for fragile X syndrome
Waisman Center researchers Anita Bhattacharyya and Xinyu Zhao are looking to make stem cells glow. That glow will tell them that they have successfully turned on a gene that is usually turned off in individuals …
Experimental drug cancels effect from key intellectual disability gene in mice
A University of Wisconsin-Madison researcher who studies the most common genetic intellectual disability has used an experimental drug to reverse—in mice—damage from the mutation that causes the syndrome.
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.
Fragile X proteins involved in proper neuron development
Fragile X syndrome is the most common inherited intellectual disability and the greatest single genetic contributor to autism. Unlocking the mechanisms behind fragile X could make important revelations about the brain.