Viljem Julijan Association for Children with Rare Diseases
csb@viljem-julijan.si
Viljem Julijan Association for Children with Rare Diseases
We are on a mission to help develop gene therapy for Cockayne syndrome – type B (CSB, mutation in the gene ERCC6) — a devastating and deadly rare genetic disease. There is no treatment for it today; this research is the route to one.
Fundraising goal reached
€2.1 million
raised — the €2 million goal was reached
Thank you to every donor. The money now funds the research.
The campaign
The nationwide campaign for Karolina closed in March 2025 with a sold-out charity concert in Ljubljana and a final total of €2,102,197. Every euro now funds the development of gene therapy for Cockayne syndrome type B.
The disease
Cockayne syndrome is a very rare and complex genetic disorder that affects multiple organ systems and has a fatal outcome. The underlying cause of type B is a mutation in the ERCC6 gene, which disrupts the cell’s DNA repair mechanisms, giving rise to symptoms that resemble premature aging.
At the Viljem Julijan Association for Children with Rare Diseases we are on a mission to develop gene therapy for Cockayne syndrome type B, and we are raising funds to support research and development of that therapy. Our mission was initiated by 7-year-old girl Karolina, who has Cockayne syndrome – type B; together with her parents we wish to save her life. We have partnered with two research groups in the USA and Portugal, which are developing gene therapy for CSB.
Research
We have partnered with two research groups — in Portugal and in the USA — that are working on gene therapy for Cockayne syndrome type B.
Play video: Dr. Christina Pacak, Cure for Cockayne syndrome – type B
Play video: Dr. Clévio Nóbrega, Cure for Cockayne syndrome – type B
Algarve Biomedical Center Research Institute (ABC-RI), Portugal
Medical School, University of Minnesota, USA
Medical School, University of Minnesota, USA
News
· Ljubljana, Slovenia
Leading experts from seven countries, and families from six, gathered in Ljubljana to connect the research groups working on gene therapy for Cockayne syndrome type B and to prepare the ground for clinical testing.
· Ljubljana, Slovenia
A two-year nationwide campaign ended with a sold-out charity concert in Ljubljana and a final total of €2,102,197 — enough to fund the development of a gene therapy for Karolina's disease.
Has your child or loved one been diagnosed with Cockayne syndrome – type B?
Register as a patientKarolina’s story
“Our daughter Karolina has been diagnosed with a devastating and deadly rare genetic disease called Cockayne syndrome – type B. This disease causes severe growth failure, neurological deterioration and premature aging. There is no cure and most children with this condition do not survive beyond their teens.
We are desperate to find a way to save our precious girl and give her a chance at a normal life. That is why we have launched this website to raise funds for research and treatment of Cockayne syndrome. We believe that with your generous support, we can make a difference for Karolina and other children like her who are suffering from this terrible disease.
Please consider making a donation today and sharing this website with your family and friends. Every euro counts and every gesture of kindness matters. Together, we can give hope to Karolina and show her that she is not alone in this fight. Thank you for your compassion and generosity.”
Families are stronger together. These organizations also support research and families living with Cockayne syndrome.
Every donation supports research and development of gene therapy for this devastating and deadly rare genetic disease.
