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Restoring activity to the FMR1 gene — which is silenced in fragile X— using modulators that work to “turn on” gene expression and allow protein production to begin again is feasible in cells of the central nervous system, a study in mice reports. The study, “FMR1 Reactivating Treatments…

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

Long noncoding RNAs (lncRNAs) — long RNA molecules that do not provide instructions to make proteins and are thought to be involved in gene regulation — may become a new target for diagnosing and treating patients with fragile X spectrum disorders, according to a recent review. The review study, “…

Social avoidance, a common behavior among boys with fragile X syndrome, emerges during infancy, increases in severity across childhood, and stabilizes through adolescence and early adulthood, a study finds. The complex profile of social avoidance in fragile X was explored by U.S. researchers in the study, “Social…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

Fragile X-associated tremor/ataxia syndrome (FXTAS) should be considered in the diagnosis of patients with essential tremor who show signs of cerebellar involvement and/or drug-induced movement disorders (extrapyramidal signs), according to a study. The study, “Prevalence of fragile X‐associated tremor/ataxia syndrome: A survey of essential tremor patients with…

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…

Self-injurious and aggressive behaviors are highly prevalent and persistent among males with fragile X syndrome (FXS), a study found. These results may have implications for early intervention strategies for those most at risk, with an aim toward preventing these behaviors from emerging, and reducing the likelihood of them persisting.

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…