Patricia Inácio, PhD, science writer —

A single-step genetic test that quantifies a specific mark in the FMR1 gene may help diagnose cases of fragile X syndrome that are not identified by current approaches, a new study reports. Titled “Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for…

Boys with fragile X syndrome (FXS) who experience negative emotions such as anger and fear up to preschool age are more prone to develop anxiety, a new study suggests. The study, “Early negative affect in males and females with fragile X syndrome: implications for anxiety and autism,” was published…

Mutations in the FMR1 gene — the underlying cause of fragile X syndrome — reduce the load of inhibitory signals in the brain, resulting in “noise” that halts the ability to perceive and discriminate cues from the outside world, a study of fruit flies suggests. The study, “Reduced Lateral Inhibition…

Short-term treatment early in life with lovastatin, a medication widely prescribed for lowering cholesterol, can rescue memory deficits in a rat model of fragile X syndrome, a study shows. The study, “Sustained correction of associative learning deficits after brief, early treatment in a rat model of…

One year of treatment with approved oral diabetes medicine, metformin, helped to improve the cognitive and behavior symptoms in two patients with fragile X syndrome, a study reports. The study, “Cognitive and behavioral improvement in adults with fragile X syndrome treated with metformin‐two cases,” was published in the…

A computer-based cognitive training program called Cogmed can improve working memory and cognition and increase the attention span of children and adolescents with fragile X syndrome, according to a clinical trial. Findings from the trial were published in the study, “Cognitive training for children and adolescents with fragile…

Zynerba Pharmaceuticals’ cannabidiol gel ZYN002 has received a U.S. patent for the treatment of Fragile X syndrome. Issued by the U.S. Patent and Trademark Office under the title “Treatment of Fragile X Syndrome with Cannabidiol,” the patent includes claims to treat fragile X syndrome by administering a therapeutic…

Mutations in the FMR1 gene — the underlying cause of fragile X syndrome — result in mitochondria malformations inside developing brain nerve cells. Subsequently, this does not allow for neurons to create the necessary network of branches they need to communicate with other cells. The study with that finding, “Reduced mitochondrial…

Adolescents and adults diagnosed with fragile X syndrome (FXS) showed improvement in social gaze behavior — measured by their ability to maintain visual contact and the eye’s pupil reactivity — when treated with Novartis’ mavoglurant. The study, “Effects of mavoglurant on visual attention and pupil reactivity while…

Fragile X syndrome is among the four rare genetic disorders to be included in the world’s largest newborn screening study for rare diseases. The screening, financially supported by the Angelman Syndrome Foundation, the Foundation for Prader-Willi Research and the Victorian Medical Research Acceleration Fund, will also include…