Point-of-care diagnostics for Single Nucleotide Polymorphisms genotyping: applications to food traceability, nutrigenetics and pharmacogenetics

Single Nucleotide Polymorphisms (SNPs) are common genetic variations associated to specific phenotypes. SNPs have high relevance in different biomedical areas including both preventive/personalized medicine and non-clinical contexts, such food traceability. However, current techniques for SNP genotyping are expensive, require specialized laboratories and costly instrumentations, and are time consuming. In this framework, the development of rapid, point-of-care (POC) SNP diagnostic technologies would be of great interest, opening new possibilities for early, on-site screenings in multiple fields. In this PhD thesis, starting from state-of-art approaches, a rapid and portable diagnostic strategy based on Loop Mediated Isothermal Amplification (LAMP) has been developed for SNPs genotyping. In particular, the developed strategy was applied and validated, in a naked-eye colorimetric approach, for food varietal discrimination (i.e. durum wheat variety) in a model case of industrial relevance. Moreover, the POC technology was targeted to different salivary biomarkers, to address nutrigenetics and pharmacogenetics issues. Notably, the possibility to rapidly diagnose the genetic predisposition to lactose intolerance or the impairment of folic acid metabolism was proven. Furthermore, the developed POC-compatible protocols can work with portable, battery-powered devices, allowing for POC operation of such diagnostic tests.