Since 2021, the CTNNB1 Foundation has funded six research grants valued at over $700,000 (see Basic studies and treatment strategies). Led by our team of medical and scientific advisors, we seek to build on successful studies and support risky but exciting new research directed to improving the lives of affected patients. 

We are also bringing together a larger group of researchers, neurologists, virologists, and other professionals at many meetings, including our 1st International Conference which was held March 23-24 in Madrid, Spain. 

This will allow them to share their findings and work together to determine the path forward for CTNNB1 research. Through these efforts, CTNNB1 hopes to help scientists unravel the molecular mechanisms of CTNNB1 syndrome and develop strategies for effective medicines.

To actively advance research toward our goals, CTNNB1 and its advisory boards are following a roadmap to explore and determine which studies should be funded and explored.

Our roadmap includes basic studies and studies focused on finding best treatment solutions. Basic studies include genotype-phenotype correlation study and biochemical characterization of mutations. It includes cell and animal model development and phenotyping. What we have observed from published data and our own data is that there is a lot of diversity in symptom severity.

Our goal is to find solutions for all children. Therefore, we are exploring all currently available technologies based on the gene therapy approach. The most advanced approach is gene replacement therapy, which is currently being tested for safety and efficacy.

In addition, several RNA- and DNA-based technologies are being tested for a PoC. CTNNB1 considers these goals equally important and carefully addresses each goal when allocating research funds. Together, we strive for better treatments and a cure.


University of Sydney & Children's Medical Research Institutes

Assoc. Prof. Dr. Leszek Lisowski and Dr. Wendy Gold, working on gene therapy.

National Institute of Chemistry Slovenia

Prof. dr. Roman Jerala and his team, working on gene therapy.

University Medical Centre Ljubljana, Children's Hospital

Assoc. prof. Dr. Damjan Osredkar is leading the Natural History Study.