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.
Fragile X Syndrome
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.
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 …
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.
Kris Saha, PhD
Millions of people globally are at high risk for neurodegenerative disorders, infertility or having children with a disability as a result of the Fragile X (FX) premutation, a genetic abnormality in FMR1 that is underdiagnosed.
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 …
Marsha R. Mailick, PhD
Title: FMR1 Genotype Interacts with Parenting Stress to Shape Health and Functional Abilities in Older Age. Legend: Among those with modal numbers of CGG repeats (around 30), the figure shows similarity between parents of children …
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 …
Xinyu Zhao, PhD
Title: MDM2 inhibition rescues neurogenic and cognitive deficits in a mouse model of fragile X syndrome Legend: Left: Models for FMRP regulation of the MDM2 and P53 pathway, which impacts adult neurogenesis and cognition. Right …