I am a researcher at the Institute of Biomedical Technologies (ITB-CNR) in Pisa, where my work focuses on the role of the cohesin complex and the SMC1A gene in cancer and rare genetic disorders. My research investigates how alterations of cohesin affect genome stability, gene regulation and cell fate, with particular attention to colorectal cancer, Cornelia de Lange syndrome and SMC1A-related epileptic encephalopathies. I combine molecular and cellular biology approaches with functional genomics and patient-derived models to dissect disease mechanisms and identify novel therapeutic vulnerabilities. A key aspect of my work is the development and use of advanced cellular models to better understand genotype–phenotype relationships. I collaborate with international research groups and contribute to scientific dissemination and student training.
Research Activities
Computational analysis and pipeline development for genomics data (bulk, single-cell, spatial genomics data)
Genome-wide association studies (GWAS) for the identification of germline variants associated with diseases, other binary phenotypes and quantitative traits.
Transcriptomic analysis of cancer cells, stem cells, organoids, human and murine tissues in disease models
Study of molecular and cellular mechanisms in tumorigenesis with a focus on dissecting cellular heterogeneity and interactions within the tumor microenvironment
Investigating the roles of genes involved in age-related diseases to elucidate their molecular mechanisms underlying cellular senescence and tissue damage
