Objetivo Expansion of a hexanucleotide repeat G4C2 in the non-coding region of chromosome 9 open reading frame 72 (C9orf72) is the most common genetic cause for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). ALS is a fatal condition characterized by progressive motor deficits, degeneration of upper and lower motor neurons (MNs) and death from neuromuscular respiratory failure in the majority of afflicted individuals within 3-5 years. Currently, the economic burden of care and treatment for patients with ALS/FTD is expensive and continues to significantly rise in Europe and worldwide. While significant genetic discoveries have been made in the field, they have not yet translated to treatment options for patients with ALS and FTD. Thus, research efforts aimed at identifying therapeutic targets are of the utmost importance to enable therapeutic development for these devastating disorders. In this ERC Proof of Concept project, we will design, optimise and test gene therapy vectors containing CRISPR/Cas9 system to selectively remove the pathogenic ALS/FTD-related C9orf72 hexanucleotide repeat expansion in mouse models of C9orf72-related ALS, with the ultimate aim of designing a therapy for patients with C9orf72-related ALS/FTD. The ultimate benefit of this approach goes far beyond just ALS/FTD however. A successful CNS gene therapy for C9orf72 related disease potentiates the prospect of developing similar approaches to treat multiple disease scenarios amenable to gene modification. Indeed, growing evidence suggests that C9orf72 repeat expansions also contribute to a wide spectrum of neurodegenerative diseases such as Alzheimer’s, Huntington’s, multiple sclerosis, Parkinson’s disease and cerebellar ataxias. We therefore anticipate that our strategy could be beneficial for other neurological conditions. Ámbito científico medical and health sciencesbasic medicineneurologydementiaalzheimermedical and health sciencesmedical biotechnologygenetic engineeringgene therapymedical and health sciencesbasic medicineneurologymultiple sclerosismedical and health sciencesbasic medicineneurologyparkinsonmedical and health sciencesbasic medicineneurologyamyotrophic lateral sclerosis Programa(s) H2020-EU.1.1. - EXCELLENT SCIENCE - European Research Council (ERC) Main Programme Tema(s) ERC-PoC-2016 - ERC-Proof of Concept-2016 Convocatoria de propuestas ERC-2016-PoC Consulte otros proyectos de esta convocatoria Régimen de financiación ERC-POC - Proof of Concept Grant Institución de acogida THE UNIVERSITY OF SHEFFIELD Aportación neta de la UEn € 149 995,00 Dirección FIRTH COURT WESTERN BANK S10 2TN Sheffield Reino Unido Ver en el mapa Región Yorkshire and the Humber South Yorkshire Sheffield Tipo de actividad Higher or Secondary Education Establishments Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Participación en los programas de I+D de la UE Opens in new window Red de colaboración de HORIZON Opens in new window Coste total € 149 995,00 Beneficiarios (1) Ordenar alfabéticamente Ordenar por aportación neta de la UE Ampliar todo Contraer todo THE UNIVERSITY OF SHEFFIELD Reino Unido Aportación neta de la UEn € 149 995,00 Dirección FIRTH COURT WESTERN BANK S10 2TN Sheffield Ver en el mapa Región Yorkshire and the Humber South Yorkshire Sheffield Tipo de actividad Higher or Secondary Education Establishments Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Participación en los programas de I+D de la UE Opens in new window Red de colaboración de HORIZON Opens in new window Coste total € 149 995,00
