The CTNNB1 Foundation was established on February 5, 2021, less than a year before the Foundation President’s son, Urban, was diagnosed with CTNNB1 syndrome. Her strong desire and determination to help her son has grown to help all affected children. The Foundation obtained the consent of the Ministry of Health of the Republic of Slovenia on the 10th of March 2021 and based on this consent it was entered into the register of institutions on the 7th of March 2021.
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 to motivate for profit pharmaceutical companies to investigate further. In the end, it is usually the parents who fight alone to develop treatment solutions.
Our program includes the 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 advances will lead to an expansion of knowledge and also provide novel resources for other diseases as well.
The motivation of this foundation is to make lives of the affected families at least a little easier. It involves raising funds and financing activities to develop gene therapies for children diagnosed with rare genetic diseases. Our goal is to maintain hope and prove that, given time and sufficient funding, we will be able to cure or at least alleviate the symptoms of other rare genetic diseases that are potential candidates for gene therapy.
The timing of therapy is very important. For parents, the clock is ticking. However, research takes time – or more importantly, – research should take time. We want to follow all the necessary testing to make sure that the therapy is safe and effective.
This foundation is currently funded by the founder’s family, who has dedicated a sufficient amount to get this project started, but not enough to continue. For this reason, we are trying to obtain additional funds to finance the research and eventually develop a treatment for Urban and other children with the same diagnosis.
Let’s step together and help our children on their way to a healthy future.
Name: CTNNB1 Foundation, The Gene Therapy Research Institute
Address: Dalmatinova ulica 5, Ljubljana
Registration number: 4125878000
Tax number: 62919571
Bank account: SI56 6100-00025350715
Founders: Špela Miroševič, Samo Miroševič
President and Founder: Špela Miroševič, PhD
Tel.: +386 31 731 269