I am an Assistant Professor in Medical Genetics at the Department of Molecular and Translational Medicine, University of Brescia (Italy). After obtaining my degree in Biological Sciences in 2005, I performed specific training, at the Division of Biology and Genetics of the University of Brescia, in Applied Biology and Molecular Genetics focusing on the characterization of the functional role of the SLC2A10 gene involved in the molecular pathogenesis of arterial tortuosity syndrome (ATS), a rare autosomal recessive vascular connective tissue disorder. These activities resulted in a PhD degree (2009) in Molecular Genetics applied to Biomedical Sciences, with a thesis entitled “Arterial tortuosity syndrome: molecular characterization of cells derived from patients with mutations in the SLC2A10 gene and characterization of the slc2a10 orthologue in zebrafish”. I completed my professional formation obtaining the residency in Medical Genetics in 2015 with a thesis entitled “Integrated approaches of transcriptomics and proteomics for the definition of the etiopathogenesis of arterial tortuosity syndrome”, which was focused on the elucidation of aberrantly expressed genes and related cellular pathways in ATS patients' dermal fibroblasts by performing microarray-based transcriptome analyses. My major scientific interest and research activity is the definition of disease processes involved in the pathophysiology of Ehlers-Danlos Syndromes and related connective tissue disorders.