Immunomediated Diseases and Innovative Therapies

We have developed a gene editing strategy (based on CRISPR/Cas9) targeting the hepatocytes to treat mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) using a murine model of this metabolic disease. The delivery of the gene editing tools were different types of nanoparticles made in collaboration with the group of S. Borrós (Institut Químic de Sarrià) and the Canadian company Acuitas^ã. The gene therapy was successful in improving the biochemical parameters (nucleoside plasma levels) in vivo for at least 1 year. Also, in collaboration with the group of F. Munell (Pediatric Neurology, VHIR) and R. Hernández (University of Navarra) we are developing a novel gene therapy approach to treat congenital muscular dystrophy type 1A (MCD1A), a progressive and orphan genetic disease which represents about 40% of all congenital muscular dystrophies. Finally, in collaboration with the groups of J. Verdaguer (UdL) and L. Tort (UAB), we are investigating the cytolytic activity and the mechanism of action of a new family of peptides derived from intermediate filaments.