Steve Bryson, PhD, science writer —

Rett syndrome community members are invited to participate in a public meeting with the U.S. Food and Drug Administration (FDA) to share their perspectives about the condition and help influence the development of new therapies. Hosted by the International Rett Syndrome Foundation and the Rett Syndrome Research…

Regulatory RNAs involved in nerve cell signaling and structure were altered in cell and mouse models of Rett syndrome, with these changes also evident in tissue from deceased patients, a study reported. These findings aid in understanding the biological processes impaired in Rett and may reveal potential biomarkers to…

Sex-specific changes in the gut microbiome and associated metabolites came before disease progression in a mouse model of Rett syndrome, a study demonstrated. Notably, the study showed that female Rett mice models mimicked the syndrome’s microbial and molecular signatures better than male Rett mice, which are primarily used in…

The European Commission has granted orphan drug designation to TSHA-102, an investigational gene therapy for the treatment of Rett syndrome. The designation encourages the development of medicines to diagnose, prevent, or treat life-threatening or debilitating diseases that affect fewer than five in 10,000 people living in the European…

Using a comparative genomics approach, researchers have identified three potential therapies for Rett syndrome that are being used or tested for other indications. “This study highlights the potential of comparative genomics to accelerate drug discovery, and yields potential new avenues for the treatment of [Rett],” the researchers wrote. …

Brain organoids grown from stem cells derived from people with Rett syndrome reproduced patterns of electrical brain activity that resembled seizures, a hallmark of the condition, a study demonstrated. Use of anti-seizure medications restored electrical activity to normal levels, supporting the use of brain organoid models to investigate underlying…

A first-generation university student has been awarded a six-year, $466,669 grant from the National Institutes of Health (NIH) to fund his doctoral and postdoctoral research into brain-derived neurotrophic factor (BDNF), a protein that plays a role in Rett syndrome. The Virginia Tech student, Raymundo Hernandez, called the NIH grant…

Treatment with a protein called CNF1 produced different results in two different mouse models of Rett syndrome, demonstrating a need to test therapeutic approaches across disease models, according to a study. Specifically, the CNF1 protein was able to rescue cognitive deficits, but not motor difficulties, in a mouse model…

The use of microRNA molecules that targeted a protein receptor important for nerve cell growth led to improved behaviors and motor function in a Rett syndrome mouse model, a study shows. These molecules were carried by tiny vesicles called exosomes, which were derived from human urinary stem cells. The…

A study suggests lower intake of dietary protein is associated with more severe growth deficits in Taiwanese children with Rett syndrome. While dystonia — uncontrolled movements due to muscle contractions — increased with age, it did not affect growth, the scientists…