News

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…

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…

Compounds that can restore potassium balance in some brain regions may potentially treat sensory hypersensitivity and other symptoms in patients with fragile X syndrome, a new study suggests. The study, “Modulators of Kv3 potassium channels rescue the auditory function of Fragile X mice,” was led by researchers from…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…