Steve Bryson, PhD, science writer —

Repeated and well-structured upper body training of girls and women with Rett syndrome improves reaching and grasping ability, attention span, and reduced repetitive movements, a study suggests These findings highlight the relationship between attention and motor abilities, which has implications for the development of motor rehabilitation programs for these…

Huda Zoghbi, MD, the neurologist who discovered the MECP2 gene that causes most Rett syndrome cases, has been awarded the 2022 Kavli Prize in the field of neuroscience. Her discovery of the Rett gene provided a straightforward genetic test that allows an early and accurate diagnosis of the rare neurodevelopmental…

Boys with Klinefelter syndrome, a genetic condition caused by an extra X chromosome, more frequently show Rett syndrome-like symptoms than previously recognized, according to a large-scale chromosomal study in boys with neurodevelopmental disorders. The researchers also showed that Rett-like symptoms occurred alongside Klinefelter syndrome mosaicism (KSM), in…

Taysha Gene Therapies has launched the clinical development of TSHA-102, an investigational gene therapy for Rett syndrome. The move follows the recent approval of a clinical trial application (CTA) by Health Canada. The Sainte-Justine Mother and Child University Hospital Center, in Montreal, will serve as the initial clinical…

Activating the mGlu2 and mGlu3 receptors in the brain reversed learning deficits in a Rett syndrome mouse model, a study reported. The levels of both of these receptors were significantly lower in the brains of Rett mice, as well as Rett patients. These results support further investigation into mGlu2…

Supplementing with Vitamin D rescued the altered activity of genes associated with Rett syndrome and improved behaviors in a mouse model, a study showed. The findings indicate that supplementation could provide a simple, cost-effective therapeutic option to help Rett patients, the scientists said. The study, “Vitamin…

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…