Innovative analytical methods for the study of low and high weight molecules involved in diseases.

Personalized or precision medicine is an emerging approach to the treatment and prevention of disease, which takes into account the individual variability of genes, environment and lifestyles of each person. High Resolution Mass Spectrometry (HRMS) coupled with Ultra High Performance Liquid Chromatography (UHPLC) plays a fundamental role in characterizing and quantifying proteins and metabolites involved in the disease. The proteomic and metabolomic approaches allow the global identification, not guided by a priori hypothesis, of thousands of proteins and hundreds of metabolites present in a biological fluid and the evaluation of how these can vary in the presence of a specific disease compared to a non-pathological condition, allowing to characterize and discriminate between different study groups. In the first part PhD project has been studied the proteomic profile of autoinflammatory diseases to understand the molecular mechanisms underlying genetic diseases. Here, we analyzed the proteomic signature of unstimulated and stimulated monocytes of patients with FMF, TRAPS and MKD, describing the dysregulated intracellular pathways associated with each condition for the identification of possible biomarkers and possible novel therapeutic targets. The objective of the second part of the project is to build, optimize and share spectral MSMS with Accurate Mass Retention Time (AMRT) database libraries, using different metabolic standards (MSMLS, IROA Technologies), involved in key biological processes, to develop robust identification and quantitative methods because the compound identification process being often challenging and requiring a high degree of confidence.