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23/11/2021

ONCE collaborates with Vall Hebron Recerca to investigate a new therapy to treat retinitis pigmentosa

L'equip d'oftalmologia que ccnduirà el projecte

23/11/2021

Dr. José García Arumi and Dr. Anna Duarri from the Ophthalmology research group at Vall Hebron Recerca lead the project. 

ONCE collaborates with Vall Hebron Recerca in a project led by Dr. José García Arumi, head of the Ophthalmology Service of Vall d'Hebron University Hospital and of the Ophthalmology group of Vall d'Hebron Recerca, and Dr. Anna Duarri, principal investigator of the same research group. The work aims to develop a new gene therapy to treat retinitis pigmentosa caused by the EYS gene.

Retinitis pigmentosa is the main cause of blindness in developed countries and for this reason the Vall d'Hebron Ophthalmology team is seeking, through research, a new therapy that can treat this disease. Thanks to this research and the treatments developed as a result of it, the lives of patients and their families suffering from this disease, which is of genetic origin, will be improved.

The research of the team of researchers in Ophthalmology is focused on finding new treatments for blindness which, in most cases, is caused by a pathology in the patient's retina.

The EYeStherapy project's main objective is to find new therapies to cure retinitis pigmentosa caused by mutations in the EYS gene, which causes irreversible blindness in young patients and represents 15.9% of the cases of retinitis pigmentosa in the Spanish population.

The project aims to replace the healthy EYS gene by gene therapy with dual hybrid AAV vectors in patient stem cells and by retinal organoids derived from these to verify the reversal of the pathological phenotype. The gene therapy will also be tested in animal models to ensure its safety and efficacy for future clinical trials.

The results of the project on the genetic, clinical and biological aspects of EYS deficiency will benefit patients and their families, as well as clinicians and researchers. The genetic therapeutic approach developed in this project will also have an impact on accelerating retinitis pigmentosa therapies by translating results from preclinical research to the clinic.

What is retinitis pigmentosa?

Retinitis pigmentosa is a genetic disease caused by the EYS gene that affects light-sensitive eye cells. This affectation, in the long run, brings about a total loss of vision, causing total blindness.

Collaboration with ONCE

ONCE has decided to collaborate in the research of treatments that can improve the quality of life of patients with this pathology on which the Ophthalmology Service of Vall Hebron Recerca has been working for years.

This boost in the research of this pathology will be possible thanks to the project "Aids for research in vision" offered by ONCE and its program to promote research into diseases that cause blindness or severe visual impairment. The funding for these projects comes from the games and lotteries that ONCE has been selling for years.

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