News

Impaired function of the MeCP2 protein — the most common cause of Rett syndrome — causes defects in a process called RNA splicing, affecting protein production from genes important for nerve cell communication. The study with that finding, “Rett syndrome linked to defects in forming the…

In their continued efforts to improve health equity for people with rare diseases, Global Genes and RARE-X have joined forces to help advocacy groups collect patient data and make the most of that information. “Patient data is perhaps the most valuable asset rare disease communities can leverage to…

Novartis announced it is scrapping plans to move OAV201, an investigational gene therapy for Rett syndrome, into clinical trials. “The totality of the pre-clinical data [on OAV201] does not support a path forward to human clinical trials,” according to the company’s third quarter report for this year.

Hive Networks, a digital health company, is teaming up with the International Rett Syndrome Foundation (IRSF) to provide a cloud platform to support patients, caregivers, and researchers in the Rett community. The multi-year partnership — being announced in the midst of Rett Syndrome Awareness Month — aims to…

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…

Binding to the zinc finger protein 483 (ZNF483) may move the MeCP2 protein — defective in most cases of Rett syndrome — away from the cell nucleus, which likely affects gene activity in nerve cells, a lab study suggests. These findings shed light on the potential processes regulating the…

A comprehensive communication intervention package improved the expressive communication and/or visual attention of three women with Rett syndrome, a small study shows. These findings suggest that the intervention — which combined aided language modeling (ALM), responsive partner strategies, and a gaze-controlled device — may be beneficial for this patient population.

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…

A clinical trial evaluating oral Anavex 2-73 in children and teenagers with Rett syndrome is recruiting up to 84 girls, ages 5 to 17, at a center in Vancouver, Canada, and three sites in Australia. According to a press release from the Ontario Rett Syndrome Association, the British Columbia Children’s…

A crowdfunding campaign aims to raise $45,000 to support “Rare,” a documentary film featuring the struggles and achievements of people living with rare diseases and their families. Sweis Entertainment and Digital Cave Media launched the campaign — allowing filmmakers to finish producing and to release the documentary — on Kickstarter.