Scienze "omiche" e biologia dei sistemi complessi: applicazioni in neurologia pediatrica

The omics focus on the study of pools of biological molecules (e.g., ions, nucleic acids, proteins, enzymes) in biological samples (e.g., serum, urines, cerebrospinal fluid, saliva, tissues). They analyse, as a whole: (a) DNA genes (genomics) and their functions (functional genomics); (b) DNA transcripts or RNA (transcriptomics); (c) proteins (proteomics); (d) metabolites (metabolomics). Omics also study reciprocal interactions occurring between such molecules (interactomics) and those between these molecules and the intestinal bacterial flora (microbiomics), the environmental bacterial flora (bacteriomics), food and nutrients (foodomics) and the environment (enviromics) or the environmental modifications affecting the structure of DNA (epigenomics). The aim of such holistic approach is to understand, operating via integrative approaches, higher and more complex hierarchical principles [e.g., (complex) systems biology] aimed in turn to reply to higher-level biological queries (e.g., pathogenesis, natural history or successful prognostic/therapeutic accomplishments). From a practical viewpoint omics use methodologies and techniques based on comparative array genome analysis (array-CGH), copy number variation (CNV), whole-genome sequencing or computed-based assays, which analyse dozens, hundreds or thousands of molecules/samples. These methodologies are currently available in a number of international and national laboratories. The present review article focuses on these general and laboratoy aspects and on the practical laboratory/bench-side applications in the field of paediatric neurology: e.g., biomarkers in muscular dystrophies, in immune-mediated diseases of central nervous system, in epileptic and hypoxic-ischaemic encephalopathies, in brain traumas and in neuroncology; new metabolites in neurodegenerative diseases; analysis of neuronal/neural networks and systems in developmental neurobiology.