News

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…

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…

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…

The International Rett Syndrome Foundation (IRSF) has seen its federal funding efforts rewarded in the U.S. as a bill — passed in early March for the 2022 fiscal year and signed into law by the president — will include possible research monies for Rett syndrome. The rare neurodevelopmental…

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…

Treatment with omega-3 fatty acid restored the function of mitochondria, the production centers of cellular energy, in brain cells called astrocytes lacking MeCP2 — the key protein in most cases of Rett syndrome, a study reported. The study, “Docosahexaenoic acid increased MeCP2 mediated…

Scientists were able to improve memory recall in Rett syndrome mice by activating a set of inhibitory brain cells called somatostatin-expressing interneurons (SOM), in part by using a miniature microscope that allowed them to monitor the animals’ neurons. Deficiencies in the SOM nerve cells contributed to impairments in long-term…

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

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…

A six-month intensive and individualized exercise program prevented the progression of scoliosis, a sideways curvature of the spine, in most girls and women with Rett syndrome taking part in a study. In two young patients, the intervention completely corrected the spine’s curve. “This result is highly significant as no spontaneous scoliosis curve…