Objectif 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. Champ scientifique natural sciencesbiological sciencesneurobiologymedical and health sciencesmedical biotechnologygenetic engineeringgene therapynatural sciencesbiological sciencesmicrobiologyvirologymedical and health sciencesclinical medicineophthalmologynatural sciencesbiological sciencesgeneticsmutation Mots‑clés animal models gene therapy photoreceptors Programme(s) FP7-HEALTH - Specific Programme "Cooperation": Health Thème(s) HEALTH-2007-1.4-5 - Gene therapy tools targeting the central nervous system Appel à propositions FP7-HEALTH-2007-B Voir d’autres projets de cet appel Régime de financement CP-FP - Small or medium-scale focused research project Coordinateur FONDAZIONE TELETHON ETS Contribution de l’UE € 1 058 000,00 Adresse VIA VARESE 16/B 00185 Roma Italie Voir sur la carte Région Centro (IT) Lazio Roma Type d’activité Research Organisations Contact administratif Irene Mearelli (Ms.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée Participants (3) Trier par ordre alphabétique Trier par contribution de l’UE Tout développer Tout réduire UNIVERSITY COLLEGE LONDON Contribution de l’UE € 856 000,00 Adresse GOWER STREET WC1E 6BT LONDON Voir sur la carte Type d’activité Higher or Secondary Education Establishments Contact administratif Kent Lee (Mr.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée FONDATION ASILE DES AVEUGLES Suisse Contribution de l’UE € 774 000,00 Adresse AVENUE DE FRANCE 15 1004 LAUSANNE Voir sur la carte Type d’activité Research Organisations Contact administratif Pierre Sterckx (Mr.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée ASPER BIOTECH AS Estonie Contribution de l’UE € 283 000,00 Adresse VAKSALI 17A 50410 TARTU Voir sur la carte Type d’activité Private for-profit entities (excluding Higher or Secondary Education Establishments) Contact administratif Katrin Sak (Dr.) Liens Contacter l’organisation Opens in new window Site web Opens in new window Coût total Aucune donnée