The CTNNB1 Foundation is a non-profit organization whose central purpose is to improve the lives of children diagnosed with life-threatening and life-limiting rare genetic mutations. These, sometimes called orphan diseases, are simply not common enough or interesting enough to be further examined by pharmaceutical companies. At the end, parents are usually the ones fighting to develop treatment solutions alone.

Our first gene therapy program involves development of a treatment for CTNNB1 Syndrome. Findings from our studies will also be useful for research and treatment of other genetic diseases. We hope that further progress will lead to an expansion of knowledge and also provide novel resources for other diseases.

The motivation of this foundation is to make the life of affected families at least a bit easier. It comprehends raising funds and financing activities for development of gene therapy for children diagnosed with rare genetic diseases. Our goal is to maintain hope and prove that, with time and sufficient funding, we will be able to cure or at least ameliorate symptoms of other rare genetic disorders that are potential candidates for gene therapy. 

Timing of the therapy is very important. Parents are faced with a ticking clock. However, research takes time – or even more importantly – research should take time. We want to follow all the required medical controls and procedures to make sure that the therapy is safe and effective. 

This foundation is currently funded by the founder’s family that has dedicated a sufficient amount for starting this project, but not enough for continuation. For this reason, we are trying to obtain additional resources needed to fund research and allow us to ultimately develop a treatment for Urban and other children with a shared diagnosis. 

Let’s step together and help our children on their way to an healthy future.