The project is a multicrentric observational study. Institutions involved are:OU1 - IRCCS INM Neuromed; OU2 -University of Campania Luigi Vanvitelli; OU3 -Institute of Genetics and Biophysics Adriano Buzzati-Traverso, CNR; OU4 - Institute of Endotypes in Oncology, Metabolism and Immunology "Gaetano Salvatore" CNR; OU5 -Institute for High Performance Computing and Networking CNR. The project takes advantage from the availability of a large collection of PD samples from familiar and sporadic cases, recruited at IRCCS Neuromed, for which we already collected and stored clinical information, genetic data as well as DNA, serum, plasma and peripheral blood mononuclear cells (PBMCs) for the entire study cohort. induced pluripotent stem cells (iPSC) are available for 6 PD patients and 5 healthy subjects.
The main phases characterizing the project proposal can be summarized as follows:
1. Industrial research activities:
In this phase, an in-depth study of clinical characterization will be carried out, together with analyses of metabolic, epigenetic, and morphological (neuroimaging) profiles in selected patients. The aim is to identify new minimally invasive peripheral or structural biomarkers for AD and PD, with or without association with type 2 diabetes.
Specifically, during this phase the following activities will be carried out:
1. Selection and classification of patients;
2. Identification of genetic and metabolic profiles associated with the neurodegenerative diseases under study in a large cohort of patients recruited across the different centers;
3. Identification of epigenetic profiles within the same cohort of patients and controls;
4. Identification of morphological structures through neuroimaging;
5. Integration and analysis of omics and neuroimaging data: identification of altered metabolic pathways and biomarkers (metabolic, epigenetic, morphological) associated with disease prediction and progression;
6. Definition of a holistic data model and an acquisition platform capable of capturing and integrating information derived from heterogeneous sources;
7. Identification of relevant parameters for monitoring purposes in order to provide information useful for the early diagnosis of risk factors;
8. Identification of criteria to be used for risk assessment of the onset of comorbidities, from which appropriate interventions can be defined to properly guide and support the patient.
2. Experimental Development Activities: Design of diagnostic and disease monitoring tools.
This phase concerns the design of a potential prototype relevant for the early diagnosis of the neurodegenerative diseases under study and their association with type 2 diabetes. Specifically, in this phase the following activities will be carried out:
1. Design of minimally invasive early-diagnosis kits;
2. Design of a system for personalized therapeutic and rehabilitative monitoring of the patient.
The outcome of this phase will be the definition and selection of all possible technical and scientific solutions required to achieve the established objective.
3. Prototype Development and Validation:
In this phase, the first complete prototype will be developed. After obtaining and verifying the proper functioning of the prototype, the work will conclude with the evaluation of each procedure performed in order to establish a protocol aimed at supporting the use and application of high-resolution diagnostic kits and monitoring applications within the framework of the National Health System (NHS).
