News

A newly identified mutation in the MECP2 gene — which is linked to Rett syndrome  — was found in two females in Germany who lacked all the common symptoms of the disorder, suggesting these are two cases of atypical Rett syndrome. The report, “Novel MECP2…

  Defects in mitochondria — cells’ powerhouses — and nerve cell damage resulting from increased oxidative stress may account for the some of the cellular defects observed in Rett syndrome and CDKL5 deficiency disorder, a related neurodevelopmental disorder. The study, “Aberrant mitochondrial function in patient-derived…

From social media efforts to lighting public attractions purple, efforts are underway to observe Rett Syndrome Awareness Month. Rettsyndrome.org is helping to lead the charge, offering ways to bring greater visibility to the rare neurodevelopmental disorder, estimated to occur in 1 of every 10,000 to 23,000 female…

“Uptime” activities, such as standing and walking, that promote physical activity and work against a sedentary lifestyle can improve walking capacity and life quality in girls and women with Rett syndrome, a study reports. The study, “Feasibility and Effectiveness of an Individualized 12-Week “Uptime” Participation (U-PART) Intervention in Girls…

Resting heart rate variability may be used to predict reactivity to tactile stimuli in people with Rett syndrome, a study suggests. This approach may help to better understand sensory function in these patients. The study, “Preliminary Evidence That Resting State Heart Rate Variability Predicts Reactivity to…

Genes that are normally silenced in the X-chromosome transition from an “off’ to an “on” state at different speeds, an event that is dependent on the action of certain proteins and enzymes, according to a recent study. These findings may one day help design a targeted therapeutic strategy for…

Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…

A highly accomplished clinician and researcher, Dominique Pichard brings impressive credentials to her role as the International Rett Syndrome Foundation’s (Rettsyndrome.org) new chief science officer. As the mother of a daughter with Rett, she brings invaluable perspective. A physician specializing in dermatology, Pichard was doing her medical…

Two brothers with Rett syndrome carrying the same MECP2 mutation display distinct disease courses, a case study reports, highlighting that additional factors can modify disease severity. Researchers believe that mutations in other genes, or individual differences in the levels of the MECP2 protein in various tissues may account…

Preliminary clinical data from a Phase 2 trial testing Anavex-2-73 suggest the investigational therapy is effective and safe for the treatment of Rett syndrome. Detailed results will be presented at the 6th European Rett Syndrome Conference, to be held in Tampere, Finland, Sept. 27-28, according to a press…