Objetivo The retina represents the visual sensory receptor of the nervous system (CNS). Inherited diseases like Retintitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA), for which no therapies are available, are due to mutations in genes preferentially expressed in the photoreceptor cells of the retina. Vectors derived from the adeno-associated virus (AAV) efficiently transduce the retina of animal models. AAV-mediated gene transfer reverts retinal pigment epithelium (RPE) defects and the safety of this strategy is being tested for the first time in humans by an AAVEYE partner. However, approaches to correct photoreceptor-specific diseases are inefficient. The objective of the AAVEYE consortium is to develop state-of-the art gene transfer to photoreceptors in the retina, and to provide pre-clinical proof-of-concept of gene therapy for severe blinding retinal photoreceptor diseases to be transferred from bench to bedside. AAVEYE, which uniquely combines leading European scientists in the fields of: AAV-mediated gene transfer to the retina, elucidation of the pathogenesis of photoreceptor degeneration and design of molecular diagnostics for inherited retinal diseases, will accomplish this through: 1) development of AAV-based long-term and safe gene transfer to photoreceptors through combinations of endogenous promoters and AAV serotypes. 2) assessment of the impact of AAV-mediated photoreceptor transduction on rescue of visual function in animal models of severe RP and LCA. 3) evaluation of the efficacy of combination of gene replacement with adjuvant molecules on photoreceptor survival. 4) characterization of patients with severe inherited photoreceptor diseases to move from bench to bedside the gene therapies strategies tested. The results of this proposal will provide the knowledge and validation to further develop novel AAV-mediated therapeutic approaches with a broad potential application in the retina and central nervous system. Ámbito científico natural sciencesbiological sciencesneurobiologymedical and health sciencesmedical biotechnologygenetic engineeringgene therapynatural sciencesbiological sciencesmicrobiologyvirologymedical and health sciencesclinical medicineophthalmologynatural sciencesbiological sciencesgeneticsmutation Palabras clave animal models gene therapy photoreceptors Programa(s) FP7-HEALTH - Specific Programme "Cooperation": Health Tema(s) HEALTH-2007-1.4-5 - Gene therapy tools targeting the central nervous system Convocatoria de propuestas FP7-HEALTH-2007-B Consulte otros proyectos de esta convocatoria Régimen de financiación CP-FP - Small or medium-scale focused research project Coordinador FONDAZIONE TELETHON ETS Aportación de la UE € 1 058 000,00 Dirección VIA VARESE 16/B 00185 Roma Italia Ver en el mapa Región Centro (IT) Lazio Roma Tipo de actividad Research Organisations Contacto administrativo Irene Mearelli (Ms.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos Participantes (3) Ordenar alfabéticamente Ordenar por aportación de la UE Ampliar todo Contraer todo UNIVERSITY COLLEGE LONDON Aportación de la UE € 856 000,00 Dirección GOWER STREET WC1E 6BT LONDON Ver en el mapa Tipo de actividad Higher or Secondary Education Establishments Contacto administrativo Kent Lee (Mr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos FONDATION ASILE DES AVEUGLES Suiza Aportación de la UE € 774 000,00 Dirección AVENUE DE FRANCE 15 1004 LAUSANNE Ver en el mapa Tipo de actividad Research Organisations Contacto administrativo Pierre Sterckx (Mr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos ASPER BIOTECH AS Estonia Aportación de la UE € 283 000,00 Dirección VAKSALI 17A 50410 TARTU Ver en el mapa Tipo de actividad Private for-profit entities (excluding Higher or Secondary Education Establishments) Contacto administrativo Katrin Sak (Dr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos