The Thermo Scientific Q Exactive Orbitrap LC-MS/MS System spectrometer was delivered on Monday, May 18, 2020, to the Metabolic Diseases Research Unit in the San Paolo branch of the Bambino Gesù Pediatric Hospital in Rome: a latest-generation laboratory instrument dedicated to the untargeted study of the “metabolome” and “lipidome”.

The tool in question will allow the use of a different approach compared to the one commonly adopted up to now: while with the “targeted” study “a priori” hypotheses are made on possible anomalies, thus looking for specific markers that confirm or deny the starting hypotheses, with the “untargeted” approach all the metabolites (small molecules present in biological fluids, cells, tissues and organs) are detected which, taken together, constitute the Metabolome., a kind of “fingerprint” of each individual (metabolic fingerprint) or even of each pathology, as in the case of metabolic diseases. This leads to the definition of a “package” of discriminating metabolites without first having to hypothesize which ones they are, through multivariate statistical processing of the data obtained from the analyzed samples. Once the various metabolites have been determined and measured, the instrument and bioinformatics platforms allow us to identify those that are most important in distinguishing a healthy subject from a sick one, thus enabling us to discover any new biomarkers common to a given pathology or to measure the response to different types of drugs.

The tool is currently in use, a scientific article has been published on the data derived from metabolomic analyses also performed on CBLC patients (Metabolites 2024, 14, 428)