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.
Fragile X Syndrome
Seminar: Anis Contractor, PhD, “Correction of Synaptic and Network Alterations in Fragile X Mice”
Research in the Contractor laboratory is directed towards understanding the functional role of neurotransmitter receptors, particularly glutamate receptors, in mediating and modulating synaptic transmission and plasticity.
Kris Saha, PhD
Title: Random forest classifier performance differentiating premutation carrier mothers of individuals with FXS from mothers of individuals with autism spectrum disorders. Legend: (A) Receiver operating characteristic (ROC) curves for classifiers using three different profiles of …
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 …
Audra Sterling, PhD
Title: Examining the Language Phenotype in Children with Typical Development, Specific Language Impairment, and Fragile X Syndrome Legend: Group performance on the Third Person Singular Probe and Past Tense Probe of the Test of Early …
Leann Smith, PhD
Title: Age at menopause by CGG repeat length Legend: There was a significant curvilinear association between CGG repeat length and age at menopause (b = .003, p < .01). Neither maternal education nor smoking history …
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. The condition, called fragile X, has devastating …