Fragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains under-diagnosed in the general population. Clinical studies have shown that individuals with FXS have a complex health profile leading to unique clinical needs. However, the full impact of this X-linked disorder on the health of affected individuals is unclear and the prevalence of co-occurring conditions is unknown.
Marsha Mailick
Artificial intelligence can accelerate clinical diagnosis of fragile X syndrome
An analysis of electronic health records for 1.7 million Wisconsin patients revealed a variety of health problems newly associated with fragile X syndrome.
New NIH-funded initiative will examine Alzheimer’s disease in people with Down syndrome
A team of researchers at the University of Wisconsin–Madison is part of a new multi-institution effort to better understand Alzheimer’s disease in adults with Down syndrome. Adults with Down syndrome are at high risk for …
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.
Waisman Center launches new fund to advance intellectual and developmental disabilities genomics research
The Waisman Center, University of Wisconsin-Madison, launched a new fund to support interdisciplinary research in the area of intellectual and developmental disabilities (IDD) genomics.
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.
Marsha R. Mailick, PhD – Slide of the Week
The FMR1 premutation is of increasing interest to the fragile X syndrome (FXS) community, as questions about a primary premutation phenotype warrant research attention. One hundred FMR1 premutation carrier mothers (mean age = 58; 67 to 138 CGG repeats) of adults with fragile X syndrome were studied with respect to their physical and mental health, and motor and neurocognitive characteristics.
A child’s death brings ‘trauma that doesn’t go away’
A recent story in the New York Times discusses the trauma that parents experience after the death of a child. In particular, elderly parents who lose a child are vulnerable both emotionally and pragmatically. Waisman …
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 …