Viljem Julijan Association for Children with Rare Diseases
csb@viljem-julijan.siNews
Milestones on the way to a treatment for children with Cockayne syndrome type B.
· 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.
· Ljubljana, Slovenia
A charity relay and dozens of smaller actions brought the total for Karolina to €1,821,528 — leaving €180,000 of the €2 million needed to pay for the preclinical phase.
· Minneapolis, USA
Discovery, the magazine of the University of Minnesota Foundation, profiled Dr. Christina Pacak's work on Cockayne syndrome type B — and the Slovenian association and family behind its funding.
· Faro, Portugal
Dr. Clévio Nóbrega's team completed the first steps of the project and began experiments in mouse models of the disease — the stage at which a gene therapy either shows it can work or has to be redesigned.
· Ljubljana, Slovenia
Dr. Clévio Nóbrega came to Ljubljana, met Karolina in person, and presented the first laboratory result: brain cells given a healthy copy of the gene began producing the protein her cells cannot make.
· Blackpool, United Kingdom
Karolina and her family travelled to the international Cockayne syndrome family meeting in the UK, where the project was presented to specialists from around the world — and where the family met other families for the first time.
· Slovenia
Three-year-old Karolina had been diagnosed just before Christmas 2022. Slovenia answered the first appeal with €104,477 in three days — the start of a two-year campaign.
Every donation supports research and development of gene therapy for this devastating and deadly rare genetic disease.
