Karolina's project goes international at the Cockayne syndrome family meeting in Blackpool

In June 2023 the president of the Viljem Julijan Association, Dr. Nejc Jelen, travelled with Karolina and her family to the international meeting of families of children with Cockayne syndrome in Blackpool, organised by the British charity Amy and Friends. The project to develop a gene therapy for Cockayne syndrome type B was presented there to specialists from around the world.

For a family from a small country with a disease this rare, the meeting was the first time they were in a room full of people who already knew what they were living with.

A scientific conference alongside the families

The meeting included a scientific conference, at which the association presented the development of gene therapy for the condition to clinicians and researchers who have worked on it for decades. The response, the association reported at the time, was encouraging.

It was also where the Slovenian team met Dr. Christina Pacak and Prof. Peter B. Kang of the University of Minnesota in person for the first time — the leaders of one of the two research groups working on the therapy. Until then the collaboration had run over e-mail and video calls.

And it was where the family met other children with the same diagnosis, and parents whose children had already died of it. That is the other half of what these meetings are: not only science, but the only place where families of a one-in-a-million disease are not alone.

Why an international project matters

A therapy developed for Karolina’s mutation in the ERCC6 gene is a therapy for the disease, not for one child. Everything that works for her would be available to children with Cockayne syndrome type B anywhere.

By that point more than €860,000 of the €2 million goal had been raised in Slovenia. You can read what the research involves, and if your child has been diagnosed, join our patient registry.