News

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…

Treatment with the Alzheimer’s therapy donepezil reduced brain activation in response to a gaze stimulus, but did not directly improve cognition or correct abnormal behavior in patients with fragile X syndrome (FXS), according to a 12-week Phase 2 trial. The study, “Brain circuitry, behavior, and cognition:…

It wasn’t until Gordana Loleska’s son David was 14 years old that doctors in their native North Macedonia diagnosed his kidney, vision, and hearing problems as Alport syndrome. Although she had known for years that something was wrong, the news that David would battle a lifelong rare disease devastated…

Mutations in the FMR1 gene — the underlying cause of fragile X syndrome — reduce the load of inhibitory signals in the brain, resulting in “noise” that halts the ability to perceive and discriminate cues from the outside world, a study of fruit flies suggests. The study, “Reduced Lateral Inhibition…

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, “…