Author Archives: Steve Bryson PhD

Klinefelter Syndrome Boys Show Rett Symptoms More Than Believed

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 Launches Clinical Program to Test TSHA-102 Gene Therapy

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…

Vitamin D Eases Behavior Problems in Rett Mouse Model

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 Perspectives to Be Shared in Online Meeting With FDA

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 Appear To Be Altered in Rett Models, Study Finds

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…

Experimental Rett Therapy Now an Orphan Drug in Europe

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…

Comparative Genomics Identifies 3 Potential Therapies

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. …

3D Brain Organoids Useful as Rett Syndrome Model, Study Shows 

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…