Algarve researcher gets €1 million to study therapy for rare disorder

Team hopes to test gene therapy in clinical trials in two years

A researcher from the Algarve Biomedical Center Research Institute (ABC-RI) has received a €1 million donation to develop a gene therapy for Cockayne Syndrome, a rare and incurable disorder which affects mostly children.

The disorder leads to short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay, affecting around 2.7 children per one million births in Western Europe.

“As there is no therapy until now that changes the progression of the disease, the UAlg researcher’s project aims to find an answer in genes, which if successful could not only change the disease’s progression but also its symptoms,” the university says in a statement.

The money to carry out the work has been provided by a “private patron who prefers to remain anonymous,” ABC-RI confirmed to the Resident.

The project – entitled ‘CureCSB – Development of a Gene Therapy for Cockayne Syndrome Type B’ – aims to develop this gene therapy in the next two years which could be tested in clinical trials and implemented as soon as possible.

The researcher, Clévio Nóbrega, acknowledges that “there is a long road ahead” but guarantees that he and his team are “working in a very focused way to ensure that, even if it is long, the journey will be completed in the least amount of time possible and with the best results.”

Meanwhile, ABC president Nuno Marques says the project is proof that “ABC-RI has the technology, team and acknowledgment needed to contribute in a very fruitful way to the developments of medicine on an international scale.”

Isabel Palmeirim, head of UAlg’s Faculty of Medicine and Biomedical Sciences, says the project is in line with the university’s goal to focus its attention on “innovation and discovery” as well as the problems that affect society.

“The University of Algarve and the Faculty of Medicine and Biomedical Sciences will continue to carry out their work with the goal of strengthening the country and the region,” Palmeirim added.

By Michael Bruxo