Dr. Carlos Portera-Cailliau investigates synaptic and circuit changes in the mouse model of Fragile X syndrome in his lab at the UCLA David Geffen School of Medicine, where he is on faculty. He has received grants from the NIH, the Dana Foundation, the March of Dimes Foundation, the Simons Foundation, and the John Merck Fund. From 2013 to 2021 he was the co-director of the UCLA-Caltech medical Scientist Training Program. He still sees patients in the movement disorders clinic.
A newer cancer drug may also be a treatment option for a leading intellectual and developmental disability. Fragile X syndrome (FXS) is the most common form of inherited intellectual disability.
James Manlick is going to homecoming this year and he simply can’t contain his excitement. A huge smile lights up his face as he talks about the dance.
Title: Association between FMR1 CGG Repeat Number Polymorphism and Phenotypic Variation in the General Population Legend: Associations between CGG repeat lengths and phenotypes. (A) Linear association with IQ. (B) Linear association with college graduate (males only). (C) …
Autism spectrum disorder (ASD) and fragile X syndrome (FXS) are neurodevelopmental disorders with overlapping pragmatic language impairments. Prior work suggests pragmatic language differences may run in families. This study examined specific pragmatic difficulties (i.e., linguistic mazes and perseverations) in boys (9–18 years) with idiopathic ASD (n = 26) and FXS+ASD (n = 29), and relationships with maternal maze use.
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.
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.
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), …
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.
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.