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 …
Fragile X Syndrome
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.
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 …
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 …
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 …