Several recent studies support genetic testing for ALL patients with Cerebral Palsy. The Weinberg Family CP Center at Columbia University has put this into practice. Dr. Jason Carmel, Executive Director, explains “we routinely screen all of our patients with CP for a genetic cause.” This is also the reason we partner with Probably Genetic to…Read More →
What is CTNNB1?
CTNNB1 Syndrome is a rare genetic disorder related to the CTNNB1 gene.
How We Help
By funding CTNNB1 research, we are creating a roadmap for a cure.
Get connected with other children and parents in the CTNNB1 community.
Help Find a Cure
Learn how to get involved to support research and spread awareness.
It's always a good time to show you care about rare! There are over 300 million people worldwide living with a rare disease. A disease is considered rare if it affects fewer than 1 in 2,000 people. Since CTNNB1 Syndrome is estimated to have a prevalence of about 1 in 33,333, it is a rare disease. Therefore, CTNNB1 Connect & Cure joins the efforts of the rest of the rare community to achieve equitable access to diagnosis, treatment, health and social care and social opportunity for people affected by a rare disease. One new way we are doing this is through our Rare Disease Collection on our shop!Browse the Rare Disease Collection now!
Our Family Connections list helps our CTNNB1 families connect more with each other in their area and while traveling. It also gives us a worldwide picture of cases and where we need to focus our outreach efforts for genetic testing and support.Join the List
Join Our Natural History Studies
More than 200 families have already started the process of joining the CTNNB1 Natural History Studies. Will you join this important effort?Learn How to Enroll
Listen to the latest CTNNB1 Connect and Cure Podcast
Hosted by Annie Wood, the CTNNB1 Connect and Cure Podcast is for anyone looking for information on CTNNB1 Syndrome. Tune in to listen to information, research stories, and ideas while connecting to other people in our community.Listen Now
Support CTNNB1 Research
Your donations are used to advance research on CTNNB1 Syndrome. Give today to create a bright future for our community of champions.Make a Gift
Rare Epilepsy Network (REN) is a volunteer network that connects rare epilepsy organizations and broad epilepsy stakeholders to work together to improve the lives lived of our individual constituents. They work to promote and enable successful patient-centered outcomes research, enable successful clinical trials in the rare epilepsies, and increase representation of the rare epilepsies in funding,…Read More →
Jennifer M. Bain, MD, PhD, is a physician scientist specializing in pediatric neurology. Dr. Bain is leading the cerebral palsy genetics study at the Weinberg Family Cerebral Palsy Center at Columbia University. She has a special interest in developmental disorders, including CTNNB1. Dr. Bain performed neurology assessments this past summer for our Natural History Study,…Read More →