Diego Martinelli

Dr Diego Martinelli obtained his degree in Medicine in 2003 at the University Cattolica del Sacro Cuore in Rome, where he specialised in Child Neuropsychiatry in 2009 and completed his PhD in Developmental Neuroscience in 2012. He carried out research activities as a Post-doctoral Visiting Fellow at the Section of Translational Neuroscience, Molecular Medicine Program, of the Eunice Kennedy Shriver National Institute of Child Health and Human Development in Bethesda, USA. Since 2009, he has been working for the Bambino Gesù Paediatric Hospital in Rome, where he is currently a highly specialized medical director in the Division of Metabolic Diseases. His research activity is mainly focused on the elucidation of pathogenetic mechanisms and identification of new diseases genes and biomarkers in congenital errors of metabolism, including fatty acid oxidation disorders, as well as organic acidaemias, urea cycle defects, homocystinurias, and mitochondrial disorders. Diego Martinelli leads several translational medicine projects focused on clinical and biochemical characterisation and the development of clinical guidelines, new evaluation protocols and therapeutic approaches to be tested in controlled clinical trials with patients with congenital errors of metabolism.