The genome-phenome relationship is a complex interplay between the genetic makeup and its observable traits, where genetic information translates into functional or dysfunctional features. The study of such relationship, notably unidirectional from genome to phenome, enhances our understanding of fundamental biology but also holds the promise of personalized medicine.

Disease gene identification and characterization, as well as the elucidation of pathogenetic mechanisms leading to inherited diseases, represent the primary objectives of our group. Several projects have successfully identified genes responsible for disorders of the central nervous system, host susceptibility to viral infections, and male infertility.

Dissecting the molecular events that lead to inherited diseases and understanding their underlying mechanisms is crucial for tailoring new, specific therapeutic interventions. To achieve this goal, our group employs a range of complementary approaches, based on molecular genetics and genomics, as well as on biochemistry and cell biology, utilizing both cellular and animal models.