2008-2020 Head of Human Genome Unit, Istituto Clinico Humanitas, Milan Italy
2006-present Head of Unit of “Pathogenesis and Treatment of immune and bone disease” at Telethon Institute for Gene Therapy, San Raffaele, Milan, Italy
The main focus of Villa’s research has been the molecular and cellular dissection of severe combined immunodeficiencies (SCID). My team identified the genes responsible for: Jak3 deficiency (Nature 1995), hypomorphic RAG defects (Cell 1998), X-linked thrombocytopenia (Nature Genetics 1995). In parallel, her team has identified the molecular basis of Osteopetrosis (Nature Genetics, 2000), RANKL and RANK as genes responsible for the osteoclast poor Osteopetrosis (Nature Genetics, 2007; Am J Human Genetics, 2008). I coordinate a group working on cellular basis of autoimmunity in primary immunodeficiency and novel approaches of cellular therapies including gene therapy and gene editing in hematopoietic stem cell progenitors. My team is also involved in the development of a clinical trial of gene therapy to cure autosomal recessive osteopetrosis caused by defects in TCIRG1 gene.