News

An analysis of proteins in brain tissue from men with advanced fragile X-associated tremor/ataxia syndrome (FXTAS) found an overall decrease in the abundance of key proteins compared with samples from those without this disease, a study reported. These findings provide insight into mechanisms of FXTAS, and identified potential biomarkers…

The FRAXA Research Foundation has awarded a $90,000 research grant to Stanford University scientists to evaluate the effects of potential therapy combinations in fragile X syndrome. The project will be led by researchers Philippe Jacques Mourrain, PhD, Gordon Wang, PhD, and Rochelle Coulson, PhD. Fragile X syndrome is a…

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),…

Eye-tracking technology has identified atypical visual attention patterns in women who carry the FMR1 premutation, a condition related to fragile X syndrome, that occurs later in life, a study reported.  These findings imply that visual attention patterns…

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…

Nova Mentis is launching a clinical study in the U.S. to assess the diversity of gut microbiome — the community of microbes living in the gut — in people with autism spectrum disorder (ASD), including fragile X syndrome, the company announced. The research is intended to help…

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.

Sibs, a U.K. charity that supports siblings of all ages who have a brother or sister with disability, has presented several resources for siblings of children with fragile X syndrome. Last month, the charity hosted an online workshop for parents in the fragile X community; the theme was “Supporting…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

Treatment with istradefylline — an approved therapy for Parkinson’s disease — normalized several molecular and functional nerve cell features of fragile X syndrome and improved cognitive skills in a mouse model of the disease, a study shows. The therapy, sold by Kyowa Hakko Kirin Pharma under the brand name …