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The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…

About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…

Parents of children with intellectual disability, in particular those affected by fragile X syndrome, may benefit from more information and dedicated support when considering the possibility of participating in clinical trials, a study shows. The study, “Fragile X syndrome clinical trials: exploring parental decision‐making,” was published in…

Mutations in the FMR1 gene — the underlying cause of fragile X syndrome — result in mitochondria malformations inside developing brain nerve cells. Subsequently, this does not allow for neurons to create the necessary network of branches they need to communicate with other cells. The study with that finding, “Reduced mitochondrial…

Students with fragile X who spend more time in regular classrooms are more likely to perform functional tasks without help, a new study proposes. These findings also reveal that, although the focus of fragile X research is often on males, females with fragile X syndrome need support and consideration of their…

Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…

Adolescent autistic boys who also have fragile X syndrome converse differently when it comes to certain aspects of language than autistic boys without the disease, a study suggests. This study, which examined demonstrative and personal pronoun use, adds to the knowledge of language issues in these adolescent populations…

Using eye-tracking technologies, researchers have shown that patients with fragile X syndrome avoid direct eye contact and show signs of social deficits linked to social anxiety. But they do so without the prominent reduction in social interest associated with autism spectrum disorder. The study, “Differentiating social preference and social anxiety…

Anxiety, learning difficulties, and behavior problems are the main areas of concern in patients with fragile X syndrome (FXS), according to a survey that included patients, family members or caregivers, and healthcare professionals. Survey results, which also showed that anxiety is viewed as the top treatment priority, were reported in…

Adolescents and adults diagnosed with fragile X syndrome (FXS) showed improvement in social gaze behavior — measured by their ability to maintain visual contact and the eye’s pupil reactivity — when treated with Novartis’ mavoglurant. The study, “Effects of mavoglurant on visual attention and pupil reactivity while…