Lead Monogenic Portal

Enza Maria Valente, MD, PhD

University of Pavia | Italy

Enza Maria received her MD and residency in neurology from the Catholic University in Rome, Italy and her Ph.D. from the University College of London, UK. Her initial research focused on the genetic basis of dystonia and other movement disorders. She established her first research group at the Mendel Institute in Rome, Italy, and became associate professor of medical genetics at the Universities of Messina and then Salerno. In 2007, she became full professor of medical genetics at the University of Pavia and head of the Medical Genetics Unit and Genetic Diagnostic Lab at the IRCCS Mondino Foundation. Enza Maria serves on several editorial boards of genetic and neurology journals and has published over 250 articles. She leads research on the genetic basis of Parkinson’s disease, with a special focus on the PINK1 gene. Currently, she is researching the genetic basis of neurodevelopmental disorders from congenital brain defects to better understand genotype-phenotype correlates in clinically and genetically heterogeneous Mendelian disorders to improve counselling, management, and treatment of patients. This research has been funded nationally and internationally, including an ERC Starting Grant.