CTNNB1 Connect & Cure is proud to announce a research grant award to Dr. Damon Page at Seattle Children’s and the University of Washington, funded in partnership with CURE Epilepsy. This project was selected as the recipient of the 2025 Rare Epilepsy Partnership Award and will be supported through a $50,000 matching grant.
This study represents an important milestone for the CTNNB1 community. For the first time, Dr. Page’s group will compare and correlate brain wave activity (EEG findings) from the CTNNB1 mouse model with EEG data from individuals living with CTNNB1 Syndrome to create a “cross-species framework.” The researchers will conduct proteomic profiling of the mice to understand which proteins and cellular pathways are disturbed in CTNNB1 syndrome, in relation to abnormal brain wave activity. Establishing this connection between laboratory models and human patients is a critical step in translating discoveries from the lab into meaningful therapies, helping strengthen the pathway from preclinical research to future clinical trials and treatments.
Although epilepsy is not present in every individual with CTNNB1 Syndrome, seizures remain an important clinical element and may be underrecognized within the community. Further, a person may have abnormal brain wave activity, but not seizures. Understanding why some individuals develop seizures while others do not could reveal important disease mechanisms and identify new opportunities for therapeutic intervention while building resources to support future clinical trials.
We are excited to support this work and grateful to CURE Epilepsy for partnering with us on this important investment in CTNNB1 research. Together, we are building the scientific foundation needed to accelerate progress toward better treatments and improved outcomes for individuals and families affected by CTNNB1 Syndrome.
