My research focuses on understanding the genetic architecture of complex traits and diseases through the study of isolated populations from the Cilento region in Southern Italy.
By integrating genomic, transcriptomic, proteomic, lipidomic and metabolomic data, I aim to elucidate the molecular mechanisms underlying multifactorial diseases, with a particular focus on cardiovascular and metabolic disorders. My work involves large-scale analyses such as GWAS, gene-based association studies, and eQTL mapping. I also contribute to several International Consortia performing meta-analyses of genetic data across multiple cohorts.
One of my ongoing projects focuses on type 2 diabetes, integrating RNA-seq data from PBMCs of diabetic and control individuals from the Cilento populations with genotypic information to identify differentially expressed genes and eQTLs associated with the disease. Another line of my research investigates CADASIL, a hereditary small vessel disease caused by NOTCH3 mutations. In a Cilento population, we identified a high prevalence of the p.Arg1231Cys variant within an extended pedigree, providing a unique model to study disease mechanisms and the genetic factors contributing to vascular dysfunction and cognitive impairment