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.
Fragile X Syndrome
Inside Waisman: Meet Lindsay McCary
As a third year graduate student in school psychology at the University of South Carolina, Lindsay McCary, PhD, was looking for a new advisor to help her with her dissertation. At the time, Jane Roberts, PhD, had just joined the Department of Psychology and had some data available on younger children with the genetic disorder fragile X syndrome (FXS). McCary was immediately fascinated by the new professor’s research because it integrated both behavioral and physiological data to examine an individual’s observable characteristics.
Audra Sterling, PhD – Slide of the Week
Title: Comparing tense and agreement productivity in boys with fragile X syndrome, children with developmental language disorder, and children with typical development Legend: Pattern of tense and agreement productivity across boys with fragile X syndrome (FXS), …
Improved technique illuminates fragile X protein
Researchers at the Waisman Center made a significant step in understanding the function of a specific protein, FMR1, whose absence causes fragile X syndrome, or FXS. Waisman investigators Xinyu Zhao, PhD, and Anita Bhattacharyya, PhD, with research associate Meng Li, published their paper “Identification of FMR1-regulated molecular networks in human neurodevelopment” in the March issue of the journal Genome Research.
Xinyu Zhao, PhD – Slide of the Week
Fragile X syndrome results from a loss of the RNA-binding protein fragile X mental retardation protein (FMRP). How FMRP regulates neuronal development and function remains unclear. Here we show that FMRP-deficient immature neurons exhibit impaired dendritic maturation, altered expression of mitochondrial genes, fragmented mitochondria, impaired mitochondrial function, and increased oxidative stress.
Audra Sterling, PhD – Slide of the Week
This study investigated the production of demonstratives (e.g., this, that, these) and personal pronouns in school-age boys with idiopathic autism spectrum disorder (ASD) and school-age boys with fragile X syndrome (FXS) with a co-diagnosis of ASD (FXS+ASD).
Neuroimaging in FXS and ASD
The Waisman Center at the University of Wisconsin-Madison is recruiting boys with fragile X syndrome and autism spectrum disorder for a study on language and communication skills and Magnetic Resonance Imaging (MRI). Boys should be …
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.
Xinyu Zhao, PhD – Slide of the Week
Adult neural stem cells in mouse models of fragile X syndrome (FXS) have elevated histone acetylation, leading to reduced neurogenesis. Treatment with either Nutlin-3 or Curcumin rebalances histone acetylation and rescues cognitive functions
Xinyu Zhao receives 2018 National Fragile X Foundation (NFXF) Research Award
Xinyu Zhao, PhD, received the 2018 National Fragile X Foundation (NFXF) Research Award for outstanding contributions to the understanding of fragile X syndrome. Zhao is a professor of neuroscience and Waisman Center investigator at the University of Wisconsin-Madison.