Obiettivo 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. Campo scientifico natural sciencesbiological sciencesneurobiologymedical and health sciencesmedical biotechnologygenetic engineeringgene therapynatural sciencesbiological sciencesmicrobiologyvirologymedical and health sciencesclinical medicineophthalmologynatural sciencesbiological sciencesgeneticsmutation Parole chiave animal models gene therapy photoreceptors Programma(i) FP7-HEALTH - Specific Programme "Cooperation": Health Argomento(i) HEALTH-2007-1.4-5 - Gene therapy tools targeting the central nervous system Invito a presentare proposte FP7-HEALTH-2007-B Vedi altri progetti per questo bando Meccanismo di finanziamento CP-FP - Small or medium-scale focused research project Coordinatore FONDAZIONE TELETHON ETS Contributo UE € 1 058 000,00 Indirizzo VIA VARESE 16/B 00185 Roma Italia Mostra sulla mappa Regione Centro (IT) Lazio Roma Tipo di attività Research Organisations Contatto amministrativo Irene Mearelli (Ms.) Collegamenti Contatta l’organizzazione Opens in new window Sito web Opens in new window Costo totale Nessun dato Partecipanti (3) Classifica in ordine alfabetico Classifica per Contributo UE Espandi tutto Riduci tutto UNIVERSITY COLLEGE LONDON Contributo UE € 856 000,00 Indirizzo GOWER STREET WC1E 6BT LONDON Mostra sulla mappa Tipo di attività Higher or Secondary Education Establishments Contatto amministrativo Kent Lee (Mr.) Collegamenti Contatta l’organizzazione Opens in new window Sito web Opens in new window Costo totale Nessun dato FONDATION ASILE DES AVEUGLES Svizzera Contributo UE € 774 000,00 Indirizzo AVENUE DE FRANCE 15 1004 LAUSANNE Mostra sulla mappa Tipo di attività Research Organisations Contatto amministrativo Pierre Sterckx (Mr.) Collegamenti Contatta l’organizzazione Opens in new window Sito web Opens in new window Costo totale Nessun dato ASPER BIOTECH AS Estonia Contributo UE € 283 000,00 Indirizzo VAKSALI 17A 50410 TARTU Mostra sulla mappa Tipo di attività Private for-profit entities (excluding Higher or Secondary Education Establishments) Contatto amministrativo Katrin Sak (Dr.) Collegamenti Contatta l’organizzazione Opens in new window Sito web Opens in new window Costo totale Nessun dato