Central Areolar Choroidal Dystrophy affects the retina and causes progressive vision loss. This is caused by a mutation in the peripheral gene, a protein that holds together the membranous discs that form the external segments of the photoreceptors where phototransduction takes place. The aim of this project is to create an animal model that contains the same mutation carried by these patients, with the aim of studying the physiopathological evolution of this disease and treat it using CRISPR-Cas9 techniques designed by UA researcher Francis Mojica.
According to FARPE (Spain’s Federation of Associations of Inherited Retinal Dystrophies), there are between 1,800,000 and 2,000,000 people affected by degenerative diseases of the retina in Spain, being the largest affected population with macular degeneration (800,000 people). This is followed by diabetic retinopathies and retinal dystrophies, both with half a million patients affected, the most frequent retinal dystrophies being retinal pigmentary retinosis with approximately 20,000 affected people. Retinal dystrophies are considered rare diseases.
UA Professor Nicolás Cuenca was presented with this award in the context of the 21st FARPE and FUNDALUCE 2019 Research Conference under the motto "Our focus is research" held on Friday 25 October at the Alicante city university venue San Fernando, 40.
The event was presented by Vicente Campoy, member of the Board of Directors of Retina Comunidad Valenciana, who after an introduction gave way to the panel discussion made up by University of Alicante Vice President for Research Amparo Navarro, Vice Chairwoman for Social Services and Participation Imelda Fernández, technical advisor of the Royal Board on Disability María Teresa Fernández and FARPE-FUNDALUCE Chairwoman Almudena Amaya.
The awarding ceremony was followed by a panel discussion on imitation of neural coding in prosthetics, therapy of the central areolar choroid dystrophy through the generation and study of a humanised animal model and Pharmacological therapies as treatment of inherited retinal dystrophies. The debate was moderated by Alicante General Hospital Head of Ophthalmology Juan José Pérez.
The conference was organised by FARPE-FUNDALUCE and is the result of a partnership with the Royal Board on Disability, which acts as co-organiser of the conference and the ONCE. The collaboration agreement seek new therapies and eradicate the Hereditary Retina Dystrophies (DHR), promoting research on these diseases and psychosocial support for those affected.