PHYSIOPATHOLOGY STUDIES AND THERAPEUTIC APPROACHES IN ANIMAL AND CELLULAR MODELS OF NEUROMETABOLIC DISEASES

The group belongs to the Biomedical Network Research Centre for Rare Diseases (CIBERER) and to Hospital La Paz Institute for Health Research (IdiPaz). Our work is focused on rare neurometabolic diseases, performing translational studies by the generation and charactetrization of cellular and animal models of disease, as research tools to understand underlying molecular and physiopathological mechanismsm, to identify biomarkers and novel therapeutical targets. The ultimate aim is to develop personalized RNA targeted therapies (antisense oligonucleotides) as well as pharmacological therapies with antioxidant compounds and mitochondrial activators. We have generated iPS cells derived from patients’ fibroblasts and differentiated them to neurons and cardiomyocytes and applied gene edition techniques (CRISPR/Cas) to generate animal and cellular models with specific mutations identified in patients.