Forest Ray PhD,  —

In a rural village in Cameroon, in West Africa, social stigma against those with intellectual disabilities such as fragile X syndrome exists in an uneasy relationship with a deeply ingrained tradition of deference to social status, according to a new ethnographic study. A group of researchers studying this phenomenon…

The FRAXA Research Foundation is supporting a project to identify available medicines that might be repurposed to treat major depressive disorder (MDD) in people with fragile X syndrome. Depression occurs frequently among people with autism spectrum disorders (ASD), of which fragile X is the most common genetic cause.

Nova Mentis has launched an observational study examining the interconnected roles that gut microbes, serotonin, and the immune system play in the gut and brain development of people with autism spectrum disorders (ASDs), including fragile X syndrome. The study (NCT04869930) aims to develop a set of tools — a…

Nova Mentis is creating a North American data bank of people with autism spectrum disorders (ASD), which it will use for a study evaluating serotonin levels in ASD patients, including those with fragile X syndrome. The company expects that serotonin levels in various human tissues — including blood,…

Better access to information about fragile X-associated ataxia/tremor syndrome (FXTAS) could help improve the quality of life for men carrying fragile X syndrome premutations, according to the results of a small survey. The study, “Men with an FMR1 premutation and their health education needs,” was published in…

Physical health is also affected by fragile X syndrome, with problems evident in the heart, digestive system, respiratory tract and even the teeth years before the cause of patients’ intellectual difficulties might be pinpointed, scientists report. Their study, “Artificial intelligence–assisted phenotype discovery of fragile X syndrome in…

Young children with fragile X syndrome can benefit in school when teachers, therapists, and other caregivers use coping techniques and educational strategies — some very simple — that are specially adapted for the students’ disorder. Katie Clapp, the president and co-founder of the Fragile X Research Association (FRAXA),…

The fragile X mental retardation protein (FMRP) — missing or at low levels in people with fragile X syndrome — plays a key role in regulating chronic visceral pain, according to a study. Insufficient FMRP might explain some of the self-injurious behavior seen among people with fragile X syndrome.

The International Fragile X Premutation Registry, built to facilitate research into disorders caused by “premutations” in the FMR1 gene, has launched globally and is inviting carriers of these mutations or relatives of fragile X patients to join. Opened last year in the United States by the UC Davis MIND Institute and…

Alterations in a genetic quality control mechanism due to loss of FMRP — fully known as fragile X mental retardation protein — may provide clues as to how healthy function might be restored to cells affected by fragile X syndrome. The study detailing this finding, “Loss…