ONCE and IDIBELL collaborating on a project on hereditary blindness

ONCE collaborates in the project led by Ana Mendez Zunzunegui from the Cellular and molecular basis of sensory disorders research group at Bellvitge Biomedical Reseach Institute (IDIBELL) and professor at the University of Barcelona, which aims to identify new therapeutic targets against hereditary blindness.

Hereditary retinal dystrophies are disorders with great clinical and genetic heterogeneity for which there is no cure today and affecting 15,000 people in Spain according to FAARPE. To date have been reported up to 150 genes causing retinal dystrophy, illustrating the difficulty in addressing these disorders. The challenge is to design treatments to slow retinal degeneration and restore visual function, and this requires a deeper knowledge of the molecular and cellular processes altered by mutations in different genes.

The project will focus on studying the alterations caused by specific mutations in proteins that play a key role in the response to light in specialized cells in the retina. While these mutations can cause loss of function of the protein in the process (as in Leber congenital blindness type 1 and type 12), or make the mutated protein acquires a toxic function for the cell, as in the cone dystrophies and autosomal dominant pole caused by mutations in the gene GUCA1A. The project will deepen on the study of the initial damage pathways in animal models of these types of blindness in order to identify new therapeutic targets.

The project entitled "Study of the molecular basis of retinitis pigmentosa, hereditary retinal dystrophies: functional characterization of disease-causing proteins and mechanisms of pathogenicity in animal models."

ONCE with research

ONCE fulfills its social mission through various projects that promote personal autonomy, full social inclusion and protecting the rights of its members, including equality of opportunity, as full citizens they are.

The social investment that thousands of people do every day with the purchase of the coupon is returned by the ONCE to society in the form of specialized services for persons with blindness or visual impairment services.

To carry out its objectives, ONCE relies on the provision of multiple services and the implementation of various activities, Education, Employment, Rehabilitation Technical Aids adapted, Communication and Access to Information, Leisure, Sport, highlighting its commitment to boost R & D in the field of blindness and visual impairment, through collaboration in research projects related to those eye diseases that most often cause partial or total blindness.

With these collaborations, ONCE seeks to stimulate the most advanced and innovative scientific knowledge about blindness and visual impairment, to promote prevention and the development of effective therapies.