News

Zynerba‘s Zygel (ZYN002), a cannabidiol gel placed on the skin, was well-tolerated and led to a “clinically meaningful” easing of anxiety and other behavioral symptoms in children and teenagers with fragile X syndrome, according to results of a clinical trial in Australia. The findings, “A phase…

Women who carry premutations in the FMR1 gene have poorer language-related abilities, similar to those found among parents of individuals with autism spectrum disorder (ASD), a fragile X syndrome-related condition, a study has found. The study, “Language processing skills linked to FMR1 variation: A study of gaze-language coordination…

Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…

Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…

Lower levels of the FMRP protein in neural stem cells delay their conversion into neurons during brain development by disrupting the transport of RNA molecules, new research shows. Scientists say those decreased FMRP levels are likely linked to impaired learning and behavior in fragile X syndrome. These findings…

Posture impairment in young people carrying mutations associated with fragile X-associated tremor/ataxia syndrome may already be present before the onset of the first symptoms of the disorder, a study has found. The study, “Complexity based measures of postural stability provide novel evidence of functional decline in fragile X…

OV101 (gaboxadol) shows an ability to reverse the hyperactivity, irritability, anxiety, aggression and repetitive behaviors that are characteristic of fragile X syndrome, a study in a mouse model of the disease reports. These findings, “Gaboxadol Normalizes Behavioral Abnormalities in a Mouse Model of Fragile X Syndrome,”…

A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…

Boys with fragile X syndrome who show high levels of social avoidance in infancy are more likely later to have increased severity in autism spectrum disorder symptoms but reduced severity in attention-deficit/hyperactivity symptoms and anxiety, a study finds. The study, “Infant Social Avoidance Predicts Autism but Not Anxiety in…

Midbrain atrophy, commonly referred to as the hummingbird or penguin sign, can be a manifestation of fragile X-associated tremor/ataxia syndrome (FXTAS) and can mimic progressive supranuclear palsy, a case report suggests. The case was described in the study “Late-onset hummingbird sign in a woman with…