Category: Fragile X Syndrome

Five language outcome measures evaluated for intellectual disabilities studies

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A multi-university team of researchers found that expressive language sampling (ELS) can be useful in measuring outcomes in clinical trials targeting fragile X syndrome (FXS). According to their study, ELS, a set of procedures for collecting and analyzing spoken language in natural verbal interactions, yielded five language-related outcome measures that may be useful for treatment studies in intellectual disabilities, especially FXS.

Electronic records pin broad set of health risks on genetic premutation

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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

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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

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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

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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 in 4,000 males and one in 6,000 females. It’s linked to variations in the gene that makes a protein called …

Machine learning can detect a genetic disorder from speech recordings

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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 Waisman Center and Wisconsin Institute for Discovery. In a new study published this month in Scientific Reports, the researchers used …

Genetics and stress interact to shape human health and well-being

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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 life. According to the study, published recently (April 13) in the American Journal of Medical Genetics: Neuropsychiatric Genetics, individuals who …

Lighting up the search for a therapy for fragile X syndrome

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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 with fragile X syndrome. Turning on this gene – called FMR1 – could be an important way to treat this …

Experimental drug cancels effect from key intellectual disability gene in mice

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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

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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.