Professor Daniele Ghezzi

I am a researcher experienced in integrating genetic data, with molecular analysis of candidate genes, and wet-science based functional and structural characterization of the corresponding proteins. I am responsible of the “Laboratory of Neurogenetics and mitochondrial diseases”, which is part of the “Center for the study of Mitochondrial Disorders of Infancy and Childhood” at the Foundation IRCCS Neurological Institute “Besta”, an Italian referral center for diverse specific neurological conditions.
I have had a primary role in the identification of a set of new nuclear genes involved in different mitochondrial disease syndromes, demonstrated by several papers in high-impact journals. My research group is focused on the understanding of the molecular and mechanistic bases of mitochondrial disorders. While the development of new next generation sequencing technologies has rapidly offered a growing opportunity to provide large-scale and high sensitivity genomic screening allowing the identification of new disease-genes and novel pathogenic variants, this rapid advance in genetic knowledge has not been accompanied by a proper characterization of the pathological consequences of the mutant proteins at the molecular, cellular or whole-organism levels as well as by a detailed study of the corresponding physiological processes, which are often incompletely characterized.