Enza Maria Valente, PI
Email: enzamaria.valente@unipv.it
Valentina Serpieri, post-doc
Fulvio D'Abrusco, PhD student
Lidia Pollara, PhD student
Francesco Brunelli, PhD student
Giada Cuconato, PhD student
Concetta Mazzotta, PhD student
Alberto Imarisio, assegnista di ricerca
Caterina Galandra, data manager
Davide Franzone, borsista
Alessia Orsi, borsista
The Valente Lab has been carrying out for many years a translational research, which starts from the recruitment and clinical characterization of patients affected by rare neurogenetic disorders, to identify the underlying genetic cause, describe genotype-phenotype correlates and understand the pathogenetic mechanisms through functional studies, often based on patient-derived cell models.
Over the years, the Lab has dealt with several rare neurologic diseases, focusing on cerebral and cerebellar congenital malformations, pediatric ataxias, and Parkinson disease. In particular, the Valente Lab has been researching for over 20 years Joubert syndrome, a ciliopathy characterized by a unique cerebellar malformation and wide clinical and genetic heterogeneity. In this field, the Lab is internationally recognized as a reference center, contributing to describe the epidemiology and natural history of this syndrome, identify several disease-genes, define major genotype-phenotype correlates and understand key pathogenetic mechanisms related to the dysfunction of primary cilia.
A second relevant line of research dwells on hereditary forms of Parkinson disease, with a long-term focus on the PINK1 gene: following its discovery back in 2004, the Valente Lab has widely contributed to define the clinical picture and mutational spectrum related to this gene, and to identify novel interactors and neuroprotective functions at the neuronal level. Besides the PINK1 gene, research is also active on other genetic forms of Parkinson disease, such as those associated to the PARK2 and GBA genes, other of inherited movement disorders and rare neurodevelopmental disorders characterized by complex brain malformations.
The Lab has been funded by the European Research Council, and it is now funded by the Ministry of Health (with national and European projects), and by Telethon, Cariplo and Mariani Foundations.