Omics Sciences for the Identification of Pathogenetic Mechanisms and Biomarkers in Neurodegenerative Diseases

The study aims to use 'omics' sciences, employing the most advanced technologies currently available, in order to identify pathogenic genomic variants, proteins and/or altered molecular pathways in neurodegenerative diseases and to obtain a new and more complete characterisation of subjects affected by the neurodegenerative diseases under study. Thanks to the integration of genomic, gene expression (transcriptomic and epigenomic), protein and metabolic data and clinical data, the study also aims to identify new markers for the diagnosis, prognosis, also in terms of response to therapy, and monitoring of neurodegenerative diseases.

The study involves the enrolment of at least 1.200 individuals with neurodegenerative disease.

The study population consists of patients with neurodegenerative diseases from the IRCCS Ospedale Policlinico San Martino in Genoa and the IRCCS Cà Granda Ospedale Maggiore Policlinico Foundation in Milan and any other units that may wish to participate in the study after approval by the EC. The subjects eligible for enrolment will be identified during the outpatient visits scheduled during the clinical controls at the two centres. During these visits, patients will be proposed to participate in the study. The clinical diagnosis will be made according to the criteria used for each subtype of neurodegenerative disease and detailed in the project.

Different types of biological samples will be collected from patients enrolled in the study, mainly peripheral blood, saliva (if blood sampling is not possible) and urine. Samples will be taken during regular sampling at one of the follow-up visits.

Omics' analyses, mainly genomics, transcriptomics, epigenomics, etc., will be performed on the biological samples taken and/or their derivatives.