Mother developing gene therapy for her son's rare disease and 400 kids around the world

Špela Mirošević realised that her now 2 year old son Urban’s unusual development is not a regular cerebral palsy but a special case that is caused by a single malfunctioning gene called CTNNB1. This discovery was the turning point for Špela and her husband, as they didn’t lose hope, but started something that still amounts to a giant effort. They created the CTNNB1 Foundation in April 2021, and have raised about €1m in less than a year, against the goal of €2m.

The money collected in 2021 has already been directed towards preclinical studies focusing on treating the CTNNB1. This study is conducted with the help of a team of top scientists from around the globe, all of whom have come on board via Špela’s effort.The treatment in development is believed to be ready for use for Urban and 400 other children around the world with the same deficiency in early 2023. However, Špela says that it’s very likely many CTNNB1 deficiencies are undiscovered as pediatricians treat them as if they were palsies. CTNNB1 is properly diagnosed by dedicated genetic testing. Špela presented her case at the 2021 HealthDay.si conference. Her presentation in English can be watched here:

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With your help, you will help raise the missing €1m. You will also raise awareness among pediatricians that perhaps misdiagnose kids with CTNNB1. And with enough resources and some clinical luck, Urban and his peers might grow up as healthy boys.