News

Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known to science have cures or treatments approved by the U.S. Food and Drug Administration (FDA). Raising awareness of those illnesses and highlighting…

Zynerba Pharmaceuticals’ cannabidiol gel ZYN002 has received a U.S. patent for the treatment of Fragile X syndrome. Issued by the U.S. Patent and Trademark Office under the title “Treatment of Fragile X Syndrome with Cannabidiol,” the patent includes claims to treat fragile X syndrome by administering a therapeutic…

New understanding of the genetic mechanisms involved in female inheritance and X chromosome silencing may help shed light on disorders arising from defects in the X chromosome, including fragile X syndrome and Rett syndrome, a study reports. Findings of the study, “Developmental Xist induction is mediated by…

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…