Prof. Vincenzo Salpietro is a Clinician Scientist and Paediatrician with a special interest in neurosciences and genomics. From 2015 until 2018, he worked as Clinical Research Associate of Paediatric Neurogenetics at University College London (UCL); during this time, he identified different novel monogenic causes of childhood-onset neurodevelopmental disorders associated with defects in the release, the transport and the action of neurotransmitters at synapses (MIM: 618760, 618917, 619159). Currently, he works as Associate Professor of Paediatrics at University of Genoa (and Children’s Hospital Gaslini) in Italy and coordinates an international research network (SYNAPS Study Group) promoting the DNA sequencing of children affected with genetically undiagnosed conditions in Italy and worldwide. Prof. Salpietro has a special clinical and academic interest in the genetics of rare paediatric neurological disorders in children; in his work he often integrates the analysis of next-generation sequencing data with functional (cellular) experimental approaches and animal models studies. He is a member of the Genetics Society in the UK and the Paediatric Neurology Society in Italy.