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.

Family Support

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.

NEW!

Rare Disease Collection

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!

Family Connections

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

Our Latest News

Partners

Global Genes Rare Disease Partner Haystack Project Rare Voices Simons Searchlight Logo Rare Genetic Neurodevelopmental Disorders Research National Organization for Rare Disorders Logo Once Upon a Gene Logo Rare Disease Podcast Probably Genetic Logo CTNNB1 Testing Neurodevelopmental Disorders Combined Brain Logo Ciitizen Logo Natural History Study Tufts University Research Columbia University Irving Medical Center Rare epilepsy partner