Marta Figueiredo, PhD, science writer —

A gene therapy-like approach that provided a full-length MECP2 — the gene mutated in most cases of Rett syndrome — to cells safely and effectively lessened disease-specific symptoms in a mouse model of a milder form of Rett, a study shows. However, female mice treated with this approach showed…

TSHA-102, an experimental gene therapy for Rett syndrome, safely and effectively normalized levels of MeCP2 — the protein missing or defective in most Rett patients — in the brain and significantly improved survival in a mouse model of the disease, a study shows. Notably, the data suggest this investigational treatment can…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

People with Rett syndrome have significantly weaker electrical responses in the brain to visual and auditory stimuli than do their healthy peers, according to an analysis of patients in a natural history study in the U.S. The strength of these responses was also associated with both age and disease severity.

Scientists have identified two compounds that were able to rescue nerve cell defects caused by mutations in the MECP2 gene — the most common cause of Rett syndrome — in patient-derived cellular models, including “mini-brains.” These findings support the launch of a pilot clinical trial evaluating these compounds —…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

Researchers have identified a new mutation in the KIF1A gene in a girl in Australia that is associated with Rett syndrome, ending her 15-year diagnostic journey. Two new other KIF1A mutations also were found in two patients showing a severe neurodevelopmental disorder with some Rett-like features. These mutations affected…

Girls and women with Rett syndrome caused by a mutation usually associated with milder disease have the poorest quality of life, according to a large study. Data from this and previous studies suggest that such patients experience behavioral problems, including sleep disturbances, that profoundly affect quality of life. The…

Combining conventional cognitive training with transcranial direct current stimulation (tDCS) — a non-invasive, painless brain stimulation approach — safely improves attention and language skills in girls and young women with Rett syndrome, a study reports. Data suggest that tDSC potentiates the benefits of traditional training and support their…

Several genes involved in lipid (fat) metabolism, nerve cell communication, and DNA damage response may be therapeutic targets for Rett syndrome, a genetic screening in mice suggests. The work, which identified mutations associated with eased Rett symptoms in mice, was the first to point out the involvement of…