Anna Villa
Gene therapy for WASP/Omenn
The main goal of our Unit is to investigate the efficacy and safety of gene therapy approach in WAS-/- mice and in human hematopoietic stem cells using third generation self-inactivating lentiviral vector carrying WAS cDNA under the control of 1.6kb sequence of the endogenous promoter. Along with the development of the gene therapy protocol, a better understanding of the pathophysiology of WAS, and especially of the aetiology of thrombocytopenia and autoimmune manifestations is ongoing.
Our research activity includes the "Basic Biology of Omenn Syndrome project", whose main goal is to investigate the mechanisms underlying autoimmune manifestations occurring in a peculiar immunodeficiency, named Omenn syndrome. We will take advantage of a murine model carrying hypomorphic mutation in Rag2 (R229Q) that affects but not abolish V(D)J recombination process.
Our research activity includes the "Basic Biology of Omenn Syndrome project", whose main goal is to investigate the mechanisms underlying autoimmune manifestations occurring in a peculiar immunodeficiency, named Omenn syndrome. We will take advantage of a murine model carrying hypomorphic mutation in Rag2 (R229Q) that affects but not abolish V(D)J recombination process.
