My main research interest is to understand the genetic and molecular basis of liver disease, and to apply these discoveries to prevent, diagnose and treat more effectively liver disorders (both common and rare diseases), through the identification of novel biomarkers and the development of advanced precision medicine targeted therapeutic approaches. I also focused on the impact of dysmetabolism on the outcome of viral diseases, and on the role of altered iron metabolism in the pathogenesis of chronic degenerative conditions.
I use a variety of tools ranging from genomic studies in large cohorts of healthy individuals and patients with metabolic liver disease with extensive phenotypic characterization (the European Liver Biopsy Cohort and Italian EPIDEMIC cohort, and the Fondazione Genomic study, a population based cohort, and Liver Bible, a multi-OMICs characterized cohort of individuals with dysmetabolism I set up at the Fondazione Biobank), to human and molecular genetics with generation of in vitro multilineage 3D models of disease by genome editing, to understand how genetic variation leads to phenotypic manifestations.
In the iron field, I have contributed to establishing the role of body iron accumulation in the pathogenesis of metabolic and cardiovascular complications of insulin resistance, and I am contributing to evaluate the therapeutic utility of iron depletion and the modulation of iron pathways for the prevention of metabolic diseases.
During the last five years, I more robustly established the causal link between genetic variation influencing hepatic lipid metabolism alterations and the spectrum of progressive liver disease, including primary liver cancer, highlighting the role of carriage of rare genetic variants responsible for Mendelian disorders, and during the COVID-19 pandemia I contributed highlighting the first genetic determinants of the susceptibility to develop severe COVID-19.