UAlg researcher receives €1 million to study rare diseases in children

The researcher travelled to the city of Ljubljana, Slovenia, this week to present the new project and was received by the founders of the association, the scientific director and members of the association, but also met with a number of companies and government entities.

This funding follows another for the project "CureCSB - Development of a Gene Therapy for Cockayne Syndrome Type B", funded at more than €1 million, thus demonstrating the capacity of ABC-RI and the research laboratory led by Clévio Nóbrega to develop gene therapies for rare diseases in a pre-clinical context, at an international level.

According to Nejc Jelen, President of the Viljem Julijan Association for Children with Rare Diseases: "Very rare genetic diseases destroy the lives of affected children and their families. For this disease in particular, with no cure or treatment and therefore being fatal until now, there was no hope for either the patients or their families. Now we feel that there is hope and, in our association, we are very happy and excited to be able to fund Clévio Nóbrega's research. We believe that this work is very important and that it will result in a gene therapy that will save the lives of children born with this disease and other rare diseases in the future."

On the occasion of this visit, Clévio Nóbrega also highlighted the ambitious nature of the project, emphasising that "this new funding makes it possible to create a platform for the development of gene therapies for rare diseases, which will be unique at national level and innovative at European level. It is a unique challenge for our laboratory, research centre and university, but with the support and commitment we will pave the way for true innovation and translation of research results to society".

To this end, the research group already has the support of experts in both the clinical and pharmaceutical fields, ensuring close interaction with regulatory authorities for the application of gene therapy in clinical trials.

It is recalled that the Viljem Julijan Association for Children with Rare Diseases is financed mainly through fundraising actions, investing in relevant research and giving patients and their families a glimpse into the future in terms of treatment or mitigation of the effects caused by these diseases.

Caption Photo 1 (from left to right) : Clévio Nóbrega, Nejc Jelen (Scientific Director of the association), Gregor Bezenšek (who is holding Karolina, he is a well-known artist in Slovenia, presidential candidate and is the founder of the association named after his son who died at the age of 2 with a rare disease), Karolina (on his lap, she has a rare and fatal disease), Borut (Karolina's father with his sister on his lap) and Sabina (Karolina's mother).