News

Two new mutations causing Rett syndrome in the KIF1A and GRIN1 genes were discovered in two Chinese infants, a study reports. This research highlights the importance of an appropriate clinical follow‐up to ensure an accurate diagnosis, as some patients with genetic metabolic diseases may initially show…

Parents of adolescents with Rett syndrome and other neurological or psychiatric conditions are open to treatment with deep brain stimulation (DBS) to control disease symptoms, a survey shows. The findings of “Parental Attitudes Toward Deep Brain Stimulation in Adolescents with Treatment-Resistant Conditions” were published in the…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

The altered gut bacteria found in girls with Rett syndrome influence their gastrointestinal symptoms and disease severity, making the gut microbiota a potential therapeutic target with probiotic supplementation or diet plans, a review study reports. The review, “Rett Syndrome and Other Neurodevelopmental Disorders Share Common…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.