A Mother’s Journey to Rewrite a Neurodevelopmental Disorder

Špela Miroševič, a psychotherapist and biopsychologist working as a researcher at the Medical University Ljubljana in Slovenia became immersed in rare disease drug development after the birth of her son Urban. As an infant, Urban was diagnosed with the ultra-rare, neurodevelopmental condition CTNNB1 syndrome. Miroševič founded the CTNNB1 Foundation, which is now advancing Urbagen, an AAV9 gene replacement therapy named for her son. We spoke to Miroševič about how she assembled an international team of researchers, raised millions of dollars to fund research and development, and what it took to push a parent-led gene therapy all the way into a first-in-human clinical trial.