Pathogenesis and treatment of immune and bone diseases

Anna Villa

Anna Villa

Email: villa.anna@hsr.it
Location: DIBIT1 A2, Floor 2, Room 41

Group leader, Pathogenesis and treatment of immune and bone diseases Unit

Anna Villa coordinates the research  group of gene therapy of Primary immunodeficiency at SR-Tiget and is the Head of Unit at the Institute of Genetic and Biomedical Research, CNR. Her research is focused on molecular and cellular dissection of severe combined immunodeficiencies. She demonstrated that hypomorphic mutations in Rag1 and Rag2 genes impairing protein activities are responsible for a peculiar SCID form, named Omenn syndrome. In parallel with the identification of genes involved in SCID, Anna Villa has addressed her studies to the efficacy and safety of gene therapy of Wiskott Aldrich syndrome, a complex and severe X-linked disorder characterized by micro-thrombocytopenia, eczema, immunodeficiency, and increased risk to develop autoimmunity. Using third generation of lentiviral vector carrying human WAS gene driven by its own promoter, she demonstrated that gene therapy can restore functional defects in T, B cells and platelets. Anna Villa has also contributed to the molecular dissection of other genetic diseases. In the last years, she has directed her interest to a heterogeneous group of bone diseases, named Osteopetrosis. These studies represent the beginning of the molecular dissection of this complex and heterogenous inherited bone defect.