Obiettivo 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. Campo scientifico 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 Programma(i) H2020-EU.1.1. - EXCELLENT SCIENCE - European Research Council (ERC) Main Programme Argomento(i) ERC-PoC-2016 - ERC-Proof of Concept-2016 Invito a presentare proposte ERC-2016-PoC Vedi altri progetti per questo bando Meccanismo di finanziamento ERC-POC - Proof of Concept Grant Istituzione ospitante THE UNIVERSITY OF SHEFFIELD Contribution nette de l'UE € 149 995,00 Indirizzo FIRTH COURT WESTERN BANK S10 2TN Sheffield Regno Unito Mostra sulla mappa Regione Yorkshire and the Humber South Yorkshire Sheffield Tipo di attività Higher or Secondary Education Establishments Collegamenti Contatta l’organizzazione Opens in new window Sito web Opens in new window Partecipazione a programmi di R&I dell'UE Opens in new window Rete di collaborazione HORIZON Opens in new window Costo totale € 149 995,00 Beneficiari (1) Classifica in ordine alfabetico Classifica per Contributo netto dell'UE Espandi tutto Riduci tutto THE UNIVERSITY OF SHEFFIELD Regno Unito Contribution nette de l'UE € 149 995,00 Indirizzo FIRTH COURT WESTERN BANK S10 2TN Sheffield Mostra sulla mappa Regione Yorkshire and the Humber South Yorkshire Sheffield Tipo di attività Higher or Secondary Education Establishments Collegamenti Contatta l’organizzazione Opens in new window Sito web Opens in new window Partecipazione a programmi di R&I dell'UE Opens in new window Rete di collaborazione HORIZON Opens in new window Costo totale € 149 995,00
