My research is focused in the development and characterization of new mice models for human diseases. We are applying cutting-edge CRISPR/Cas9-based genome editing technology for a precise engineering of the mouse genome with the goal of reproduce human clinical alleles (knock in and knock out models). Together with the generation of transgenic mouse models expressing human gene variants, we are expanding the genetic tools available for the scientific community in areas like ALS, Charcot-Marie-Tooth, lysosomal storage diseases and several others rare disorders. Our validation process starts with a general molecular analysis based on gene expression and protein analysis as well as molecular markers relevant to the disease. The process is followed for a rigorous biometric analysis where we look for survival, growth and behavioral phenotypes. We also complement our analysis with electrophysiology, in vivo imaging and histopathology assessments. Our team is highly specialized in downstream in vivo applications for pre-clinical testing of new compounds and treatments. We have succeed in pre-clinical gene therapy studies for Charcot-Marie-Tooth-type-4J and currently ongoing gene therapy for multiple sulfatase deficiency (MSD). Thus, we are contributing to the research community with better mice models and setting new platforms for future development of more precise therapeutic strategies.
