Prof. Enza Maria Valente
The aim of this center is to develop several lines of translational research in the field of neurogenetics, in collaboration with other Mondino research centers (the Pediatric Neuroscience and Movement Disorders Centers), while also capitalizing on the activity carried out by the molecular genetics and cytogenetics diagnostic lab. The Center deals with numerous rare genetic diseases with focus on Parkinson’s disease and other movement disorders, neurodevelopmental diseases, brain malformation syndromes and pediatric ataxias. Its translational research activity begins with the recruitment of large series of patients with well-defined phenotypes; in this regard, the Center is heavily involved in the development of web-based platforms and the creation of national networks, and it also participates in ongoing international networks. Patients then undergo genetic testing (mainly based on next-generation sequencing technologies) in order to identify the disease-causing mutation in known or new disease genes, and genotype-phenotype correlation studies are carried out. The Center also develops innovative cell models (e.g., induced pluripotent stem cells generated from patient fibroblasts and differentiated into neural cell lines) in order to shed light on the pathogenetic mechanisms underlying genetic diseases. Finally, as a further research focus, the Center studies complex aspects of certain simple genetic diseases, and strives to clarify issues such as penetrance defects, variable phenotypic expression, and the presence of pathogenetic mutations that cannot be diagnosed using routine diagnostic laboratory techniques (such as cryptic genetic variants that affect gene expression or splicing, hypomorphic variants, DNA structural abnormalities, and so on). The aim of all this is to increase knowledge and understanding of the natural history of rare genetic disorders and their implications in terms of prognosis and genetic counseling for patients.