News

Invitae Corporation has launched the Invitae Carrier Screen, an affordable test designed to inform prospective parents of genetic changes that increase their risk of having a child with an inherited genetic disorder, such as fragile X syndrome. “By providing affordable, comprehensive, high-quality genetic information, Invitae carrier testing can help parents-to-be…

Chemical modification of a DNA-binding protein may provide a new therapeutic target to treat fragile X syndrome (FXS), a mouse study suggests. The study, “Reducing histone acetylation rescues cognitive deficits in a mouse model of Fragile X syndrome,” was published in …

A gene editing tool based on gold nanoparticles called CRISPR-Gold was able to reduce the repetitive behaviors associated with autism spectrum disorders (ASD) in a mouse model of fragile X syndrome (FXS), a recent study shows. The study, “Nanoparticle delivery of CRISPR into the brain rescues…

Researchers have identified a possible biomarker to detect fragile X-associated tremor/ataxia syndrome (FXTAS), according to case report. The study, “In tracellular FMRpolyG-HSP70 complex: Possible use as biochemical marker of Fragile X Tremor Ataxia Syndrome,” was published in bioRxiv. FXTAS is a late-onset neurodegenerative disease that affects those who…

Social-environmental variables can influence self-injury behavior in a large proportion of boys with fragile X syndrome, according to researchers. Their study, “Examining the influence of social-environmental variables on self-injurious behaviour in adolescent boys with fragile X syndrome,” was published in the Journal of Intellectual Disability Research.

Patients with fragile X syndrome who don’t meet the cut-off for a diagnosis of autism show a decrease in impulsivity and repetitive questioning over time, when compared with patients who do, a new study shows. The study, “Overactivity, impulsivity and repetitive behaviour in males with fragile X syndrome: contrasting…

Children with fragile X syndrome exhibit abnormal gesture use (a form of non-verbal communication) early in development, partially accounting for autism spectrum disorder (ASD) symptom severity, according to a recent study. The study “Early gesture use in fragile X syndrome” was published in the Journal of Intellectual Disability Research.

Scientists have developed a new technique for genetic testing that can predict a woman’s risk of having a child with fragile X syndrome when she carries a specific type of mutation. The study that discusses the method, “Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule…

The association between structural abnormalities in certain regions of the brain and the ability to process spacial positioning of objects has been demonstrated in a mouse model of fragile X syndrome. The study, “Impaired spatial processing in a mouse model of fragile X syndrome,” was published…

The FRAXA Research Foundation has awarded two $90,000 grants to university research projects that aim to identify new targets for fragile X syndrome therapies. The funded projects will use mini-brains grown in the laboratory to unravel the mechanisms underlying the disease and also understand what is behind the loss of…