Thanks to the support of our community, CTNNB1 Connect and Cure has awarded an additional $50,000 to Dr. Michele Jacob’s lab at Tufts University to support six more months of research advancing a potential therapy for CTNNB1 syndrome.
This funding supports our drug discovery collaboration led by Dr. Michele Jacob at Tufts University, together with scientists at the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH)and the Broad Institute. Together, these three teams are working to develop a small-molecule drug targeting β-catenin, the key protein involved in CTNNB1 syndrome (https://loom.ly/paSHQ_c).
Small-molecule medicines are designed to enter cells and interact directly with specific proteins. Because CTNNB1 syndrome primarily affects the brain, one of the major goals of this project is developing a compound that can effectively reach the brain while maintaining high precision for the target.
Encouragingly, researchers have recently made promising new breakthroughs in chemistry, giving the team confidence that they can continue improving the compound. Their goal is to identify an optimized drug candidate within the next 12–18 months.
This work is a close collaboration between the Tufts, NCATS, and Broad Institute teams. Dr. Jacob’s lab tests new compounds as they are developed, while scientists at NCATS and the Broad Institute analyze results and refine the chemistry to improve the drug’s properties.
While more research will be required before a therapy can enter clinical trials, this progress reflects the power of a community working together toward one goal: finding treatments for CTNNB1 syndrome.
Every step forward in this research is made possible by the families, donors, and supporters who believe that children with CTNNB1 deserve better treatment options—and a brighter future. 💛💙
