LABORATORY MEDICINE TECHNOLOGIES AND MOLECULAR DIAGNOSTICS

Molecular biology techniques based on nucleic acid amplification or hybridization. Techniques to study DNA methylation. Techniques for diagnosis of pathogenic microbes not based on molecular biology (isolation and identification of pathogenic bacteria, techniques for virological diagnosis not based on molecular biology). Therapeutic Drug Monitoring, TDM (pharmacokinetic parameters usually determined for TDM, methods for dosing drugs in biological samples, HPLC methods for dosing drugs, applications of TDM in diagnosis, practical lessons in a laboratory diagnostic unit performing TDM). Techniques to test the sensibility in vitro of microbial pathogens to drugs. Pharmacogenetics (basic principles and applications for diagnostic purposes, enzymes involved in drug metabolism, most common single nucleotide polymorphisms (SNPs) in the enzymes involved in drug metabolism and their pathogenetic relevance; microchips for diagnosis of these SNPs). Next-generation sequencing technologies and applications in the diagnosis and study of genetic diseases, cancer, infectious diseases, genetic diversity, genome evolution, and epidemiology; whole genome sequencing, targeted resequencing, exome sequencing, deep-sequencing, transcriptomics, metatranscriptomics, epigenomics, ChIP-sequencing, metagenomics and microbiome analysis, analysis of circulating free nucleic acids, single cell analysis. Precision medicine. Regulatory and ethical issues. Presentation and discussion of scientific articles describing recent and novel diagnostic techniques and their application.