At the heart of our mission is funding research that ultimately leads to a cure for CTNNB1 Syndrome. Guided by the Scientific Advisory Board, donations are distributed to researchers who are working as quickly and efficiently as possible to understand the CTNNB1 gene, the effects of gene mutations or deletions, and move us closer to clinical trials that are necessary for treating CTNNB1 Syndrome.
The Path to Treatment
The path to treatment isn’t easy, but remarkable progress has been made thanks to a team of dedicated researchers and our supporters.
In collaboration with Wendy Chung, MD, PhD, at Boston Children’s Hospital and Michele Jacob, PhD, at Tufts University School of Medicine, we’ve prioritized and funded research that’s leading the way when it comes to solving the unknowns of CTNNB1 Syndrome.
Our Natural History Studies are vital for future clinical trials. To date, over 250 families have registered!
Our research conferences are an opportunity for families and researchers to get together and hear about progress from recent CTNNB1 studies. Learn more about this year’s conference and catch up on what you missed in previous years’ conferences.
While there is significant research on the CTNNB1 gene in relation to cancer, there is relatively little known about the de novo genetic mutation that causes CTNNB1 Syndrome. Browse our list of related medical studies and scientific articles.