· Ljubljana, Slovenia
Healthy gene delivered into brain cells: Dr. Nóbrega presents the first progress in Ljubljana
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.
On 28 June 2023, Dr. Clévio Nóbrega came to Ljubljana to present the first progress in developing a gene therapy for Cockayne syndrome type B — and to meet Karolina, the girl whose diagnosis started the project.
Dr. Nóbrega leads one of the two research groups working on the therapy, at the Algarve Biomedical Center Research Institute in Portugal. He was hosted by the Viljem Julijan Association together with its president, Dr. Nejc Jelen, and the musician Gregor Bezenšek Jr. – SoulGreg Artist.
What he showed
In laboratory models, his team delivered a healthy copy of the gene that is faulty in Karolina into the brain cells of mice — and the cells then began producing the healthy protein that her cells cannot make.
That sentence is worth reading twice, and then reading carefully. It is a real result: it shows the approach can do what it is supposed to do, in cells, in a living animal’s tissue. It is not a treatment, and it was never presented as one. Between that step and a therapy for a child lie years of work on the delivery vehicle, the dose, the safety and the regulatory path — the work described on our gene therapy research page.
Meeting Karolina
The scientist and the child met at the press conference in Ljubljana. For families living with a rare disease, that moment matters more than it may appear from the outside: the research stops being an abstraction somewhere abroad, and the person doing it has met your daughter.
At that point more than €880,000 of the €2 million goal had been raised. The campaign closed in March 2025 at €2,102,197.
Published by Viljem Julijan Association for Children with Rare Diseases. Photo: archive of the association.
