Advancing knowledge of human development, developmental disabilities, and neurodegenerative diseases.
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 upper: Schematic of novel location test for assessing spatial learning. Right lower panel Nutlin-3 treatment fully rescued spatial memory deficits in Fmr1 …
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 Grammatical Impairment Citation: Haebig, E., Sterling, A., & Hoover, J. (in press). Examining the language phenotype in children with typical …
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 was significantly associated with age at menopause. The effect remained significant even after the case with 180 CGG repeats was …
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.
Legend: Fig. 1. Frequency of specific CGG repeat lengths >40 for men and women. Citation: Maenner MJ, Baker MW, Broman KW, Tian J, Barnes JK, Atkins A, McPherson E, Hong J, Brilliant MH, Mailick MR. (2013). FMR1 CGG expansions: prevalence and sex ratios. American Journal of MedicalGenetics Part B: Neuropsychiatric Genetics. 162B(5):466-73. Abstract: We have estimated …
Women who have a child with fragile X syndrome (FXS) and are themselves carriers of a “premutation” in the gene linked to FXS are at an increased risk of developing depression and certain kinds of anxiety disorders over time, according to a recent study by researchers at the Waisman Center and the University of South Carolina.
Title: iPSC-Derived Forebrain Neurons from FXS Individuals Show Defects in Initial Neurite Outgrowth Legend: Left panel: Skin cells from individuals with fragile X syndrome (FXS) can be reprogrammed into induced pluripotent stem cells (iPSCs) that have characteristics of human embryonic stem cells. These iPSCs can then be differentiated into forebrain cortical neurons to study neuronal …
Fragile X syndrome is the most common inherited intellectual disability and the greatest single genetic contributor to autism. Unlocking the mechanisms behind fragile X could make important revelations about the brain.
The telegram from President John F. Kennedy to University of Wisconsin President Fred Harrington was both eerie and visionary. Eerie because it was delivered Nov. 20, 1963 – just two days before Kennedy was assassinated in Dallas – and visionary because it seemed to anticipate the challenges confronting science in its quest to explore the human brain.
As researchers delve further into the genetic basis for disease, they face a conundrum: finding enough affected people who can fill out a true picture of mutations that can vary from one person to another.
