Obiettivo "Cystic Fibrosis is a hereditary disease produced by the absence or malfunctioning of the Cystic Fibrosis Transmembrane Conductase Regulator (CFTR) gene. To date over 1,200 alterations in the DNA composition of the CFTR gene have been detected, although the deletion of the phenylalanine in position 508 (ΔF508) is responsible for more than 70% of the cases described in the European Population. CF is a degenerative disease, which can be considered as the main genetic cause of death in Caucasian children. Its first manifestations occur in early childhood, generally affecting the respiratory tract, and later extending to other organs.The identification and isolation of the gene responsible for the disease raised great expectations of finding a treatment. However, such hopes have yet to be realized. Different attempts to develop effective gene therapy protocols have not provided satisfactory results.In the current circumstances, I believe that the best strategy to develop an effective treatment for CF is to use autologous grafts of healthy lung epithelium progenitors, derived, in vitro, from human induced pluripotent stem (iPS) cells.The method that I propose will be developed simultaneously in human and mouse cells, and includes the following steps: (I) Production of iPS cells from keratinocytes obtained from ΔF508 CF patients and ΔF508 mutant mice; (II) Correction of the mutation in the iPS cells; (III) in vitro differentiation of repaired iPS (iPSr) cells up to a state compatible with their functional integration into the pulmonary epithelium; (IV) Transplantation of the differentiated cells into suitable receptors.Steps I through III will be carried out in parallel with human and mouse cells. Step IV will serve as a preclinical study and will be performed only in mice. During the process we plan to: 1) incorporate new, less aggressive de-differentiation methods, 2) improve homologous recombination efficiency in iPS cells, 3) determine the optimal differ" Campo scientifico scienze mediche e della salutebiotecnologia medicaingegneria geneticaterapia genicascienze naturaliscienze biologichegeneticaDNAscienze naturaliscienze biologichegeneticamutazionescienze mediche e della salutemedicina clinicatrapianto Programma(i) FP7-PEOPLE - Specific programme "People" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013) Argomento(i) FP7-PEOPLE-2010-IEF - Marie-Curie Action: "Intra-European fellowships for career development" Invito a presentare proposte FP7-PEOPLE-2010-IEF Vedi altri progetti per questo bando Meccanismo di finanziamento MC-IEF - Intra-European Fellowships (IEF) Coordinatore FUNDACIO INSTITUT D'INVESTIGACIO SANITARIA ILLES BALEARS Indirizzo Carretera de valldemossa, 79 07120 Palma Spagna Mostra sulla mappa Regione Este Illes Balears Mallorca Tipo di attività Research Organisations Contatto amministrativo Daniel Bachiller (Dr.) Collegamenti Contatta l’organizzazione Opens in new window Sito web Opens in new window Contributo UE Nessun dato
