Full Professor in Medical Genetics

My research unit studies interindividual genomic and epigenomic variability and its relevance to the development of complex diseases (cardiovascular and cancer), pharmacogenetics/pharmacogenomics, and population medicine applications. The Unit draws on the expertise and multidisciplinary approach of geneticists, molecular biologists, biotechnologists, mathematicians, bioinformaticians, and biostatisticians, and collaborates closely with clinical research groups. The use of high-throughput molecular analysis platforms, such as massively parallel sequencing, allows for the increasingly detailed characterization of interindividual differences in large populations, identifying groups of highly informative genetic and epigenetic markers, with potential implications for personalized medicine. Specifically, the Unit has significant experience in studying genomic variability through next-generation sequencing (NGS), including the development and analysis of gene panels, exome sequencing, and whole genome sequencing, drawing on a reference database of the Italian population. A deeper understanding of the distribution of common and rare gene variants, combined with the ability to interpret the pathogenicity of variants of unknown significance, will enable the development of polygenic risk/prognosis models and more accurate analyses of interactions with traditional parameters and other related biomarkers (DNA methylation, miRNA, etc.). The research unit's activities span a broad range of applications using the latest "omics" techniques, including the various forms of genomic and epigenomic variability, DNA copy number variations, transcriptome and microRNA differences, and integration with proteomics data. The integration of results from the study of different types of biofluids and omics data from diverse platforms on well-characterized phenotypically and clinically characterized subjects offers new opportunities for identifying pathways and biomarkers important for early diagnosis and prognosis, allowing for the stratification of at-risk subjects and the planning of targeted prevention and therapeutic interventions.