This research area aims at discovering the genetic and epigenetic basis of rare and common diseases as well as the relationship between genes and environment through next-generation genome-wide methodologies and functional studies in a variety of model systems. Research lines are focused on: i) identification and functional characterization of genetic variants under natural selection, in healthy and pathological conditions; ii) molecular mechanisms of human diseases, such as diabetes and thyroid cancer; iii) modulation of pathogenic immune response  by  HLA class II genes and other biomarkers  in coeliac disease; iv) studying the components of the epigenetic machinery (chromatin diseases; CD), the alterations of genetic imprinting and the role of non coding RNAs to understand the interactions between genetics and epigenetics in development and pathophysiology; v) studying rare genetic diseases affecting bone remodeling, nervous system and skin development, or causing kidney failure, heart block disease, cardiomyopathy, myopathy or multi-systemic disorders.