News

Stem cells engineered to produce a constant level of a downstream target of the MECP2 protein, called brain-derived neurotrophic factor (BDNF), increased the development of new neurons and prevented body weight loss in a mouse model of Rett syndrome. The study with that finding, “Brain-Derived Neurotrophic Factor Secreting…

Female rats genetically engineered to carry a deficient Mecp2 gene — whose mutations are the leading cause of Rett syndrome — show social, behavioral, and motor symptoms that are similar to those of humans with the neurodevelopmental disorder, a study reports. These symptoms were associated with low levels of the…

The copy number of mitochondrial DNA (mtDNA) is increased significantly in patients with Rett syndrome, possibly indicating mitochondrial dysfunction, a study reported. Researchers suggest that this increase in the copy number of mtDNA is an attempt to compensate for decreased energy availability. Mitochondria are the producers of energy within…

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.