I am a researcher experienced in integrating genetic data obtained by exome-NGS, with in silico filtering and molecular analysis of candidate genes, and with wet-science based functional and structural characterization of the corresponding protein(s). In the last years I have been involved in several gene-hunting projects, initially based on linkage analysis and screening of candidate genes and, more recently, on Next-Generation Sequencing, that led me to identify a set of new nuclear genes involved in different mitochondrial disease syndromes, including: SDHAF1, AIFM1, FASTKD2, TTC19, MTO1, FBXL4, EARS2, AARS2, APOPT1, RNASEH1, RTN4IP1, MSTO1, TIMM50. I am an Associate Professor in Medical Genetics at the Università degli Studi di Milano, Italy, with teaching activities for master's degree courses (Medicine and Surgery; Medical Biotechnology) and specialization schools (Medical Genetics; Neurology; Child Neurology; Psychiatry; Ophthalmology).