Full Professor of Medical Genetics

Dr Valente graduated in Medicine and specialized in Neurology at the Catholic University if Rome and obtained her PhD in Neurogenetics at the Institute of Neurology, University College of London. She is Full Professor of Medical Genetics at University of Pavia and Head of Neurogenetics Research Center at the IRCCS Mondino Foundation, in Pavia, Italy.
Her main research interests are the genetic basis of neurodevelopmental disorders and of Parkinson Disease (PD). In the first research line, she mainly focused on the genetics basis of Joubert syndrome (JS) and neurodevelopmental ciliopathies. On this topic, she has recruited a cohort of over 600 probands, and contributed to increase knowledge on JS epidemiology, clinical spectrum, natural history and prognosis, by identifying several causative genes, discovering gene-phenotype correlates and defining pathogenic mechanisms making use of patients-derived cell models. She is cofounder of the Italian Association for JS and Congenital Ataxias (AISJAC). In the field of PD genetics, she contributed knowledge on the mutational spectrum, phenotypes and molecular functions of several PD-genes, with focus on PINK1, GBA and SNCA. She coordinates the Italian National Virtual Institute of Parkinson Disease, within the Network for Neuroscience and Neurorehabilitation funded by the Italian Ministry of Health, and is a member of the Scientific Committee and Monogenic Network of ASAP Global Parkinson’s Genetic Program (GP2).
She is author of many scientific articles and reviews on international journals, with a Scopus h-index of 74 and over 30.000 citations. Her research is funded internationally, including an ERC Starting Grant.