A recent study published in Molecular Therapy – Nucleic Acids introduces a promising therapeutic approach for CTNNB1 Syndrome, a rare genetic disorder characterized by severe intellectual disabilities, motor delays, and other neurological impairments. The research focuses on a novel gene therapy technique that aims to restore normal function of the CTNNB1 gene. In this study, researchers utilized advanced…
The Chan Zuckerberg Initiative and Citizen Health have announced a strategic investment and partnership to drive drug development and accelerate cures for rare diseases. Ctnnb1 Connect & Cure is proud to be part of this rare disease movement, with many of our members already using Citizen Health to share their de-identified data and contribute to critical…
Researchers at Tufts University School of Medicine and the Graduate School of Biomedical Sciences (GSBS) have identified a small molecule that, in mouse and human cell models, rectifies the underlying molecular cause of a rare genetic developmental disorder linked with motor and intellectual disabilities and some types of autism spectrum disorder. Their most recent research, published in EMBO Molecular Medicine, provides the…