Elisabetta Flex

In the last decade, my scientific activity has been directed to understanding the disease mechanisms underlying human genetic disorders affecting development and growth, and molecular processes contributing to haematological malignancies. In particular, my research has contributed to the identification of novel disease-genes implicated in RASopathies (i.e NRAS, RRAS, RRAS2, MAPK1), as well as to the understanding the molecular and cellular mechanisms underlying these disorders, with particular attention to LEOPARD and Noonan syndromes. My work also contributed to the identification and functional characterization of disease genes involved in severe unrecognized rare disorders characterized by multiple malformations, early-onset neurodegeneration, defects of neurodevelopment, and premature aging (i.e., ATP6V1B2, KCNH1, TBCD, TBCE, HIST1H1E, VPS4A). At the moment, my research activity is aimed at defining the metabolic profile of Costello and cardiofaciocutaneous syndromes, two developmental disorders clinically related to Noonan syndrome.