Cel 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. Dziedzina nauki natural sciencesbiological sciencesneurobiologymedical and health sciencesmedical biotechnologygenetic engineeringgene therapynatural sciencesbiological sciencesmicrobiologyvirologymedical and health sciencesclinical medicineophthalmologynatural sciencesbiological sciencesgeneticsmutation Słowa kluczowe animal models gene therapy photoreceptors Program(-y) FP7-HEALTH - Specific Programme "Cooperation": Health Temat(-y) HEALTH-2007-1.4-5 - Gene therapy tools targeting the central nervous system Zaproszenie do składania wniosków FP7-HEALTH-2007-B Zobacz inne projekty w ramach tego zaproszenia System finansowania CP-FP - Small or medium-scale focused research project Koordynator FONDAZIONE TELETHON ETS Wkład UE € 1 058 000,00 Adres VIA VARESE 16/B 00185 Roma Włochy Zobacz na mapie Region Centro (IT) Lazio Roma Rodzaj działalności Research Organisations Kontakt administracyjny Irene Mearelli (Ms.) Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Koszt całkowity Brak danych Uczestnicy (3) Sortuj alfabetycznie Sortuj według wkładu UE Rozwiń wszystko Zwiń wszystko UNIVERSITY COLLEGE LONDON Wkład UE € 856 000,00 Adres GOWER STREET WC1E 6BT LONDON Zobacz na mapie Rodzaj działalności Higher or Secondary Education Establishments Kontakt administracyjny Kent Lee (Mr.) Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Koszt całkowity Brak danych FONDATION ASILE DES AVEUGLES Szwajcaria Wkład UE € 774 000,00 Adres AVENUE DE FRANCE 15 1004 LAUSANNE Zobacz na mapie Rodzaj działalności Research Organisations Kontakt administracyjny Pierre Sterckx (Mr.) Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Koszt całkowity Brak danych ASPER BIOTECH AS Estonia Wkład UE € 283 000,00 Adres VAKSALI 17A 50410 TARTU Zobacz na mapie Rodzaj działalności Private for-profit entities (excluding Higher or Secondary Education Establishments) Kontakt administracyjny Katrin Sak (Dr.) Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Koszt całkowity Brak danych