CTNNB1 Syndrome Rare Disorder

Research

We are the only registered 501(c)(3) nonprofit working on CTNNB1 Syndrome therapies in the United States.

At the heart of our mission is funding research that ultimately leads to a cure for CTNNB1 Syndrome. Guided by the Medical 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. With more than $340,000 raised for research, our search for effective therapies and a cure is well underway.

Research We’ve Funded & Current Progress

In collaboration with Wendy Chung, MD, PhD, at Columbia University 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.

Natural History Studies

Our Natural History Studies are vital for future clinical trials. To date, 215 families have registered, and we encourage everyone to start the process so that we can provide the best possible data to researchers working on CTNNB1 Syndrome.

Annual CTNNB1 Research Conference

Our annual research conference offers 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.

Related Medical & Scientific Studies

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.

Be Part of the Cure

You can help us make our vision a reality by supporting groundbreaking research. Every donation brings us closer to treatments and a cure.

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