SCV0816 - MOLECULAR DIAGNOSTICS

The course is organized in class lectures and additional activities (e.g. visits at Molecular Diagnostics centers with accreditation, or seminars held by professionals employed in relevant Molecular Diagnostics structures), for a total of 48 hours (6 CFUs).
Class lectures will deal with the following topics:
- bases of genetic diseases and cancer
- set up of an accredited and certified laboratory of Molecular Diagnostics;
- Quality management;
- development of molecular tests, including their requirements in terms of accuracy and other clinical parameters;
- the clinical report regarding molecular diagnoses;
- ethical concerns on genetic testing;
- Genome organization, types of DNA variation and their effects;
- DNA methylation: the profile of genomic DNA methylation under physiological conditions; the enzymes involved in writing, maintaining and erasing DNA methylation; the role of DNA methylation;
- Molecular techniques applied to molecular diagnostics as well as their main applications:
1) Basic techniques such as amplification by Polymerase Chain Reaction (PCR), including primer design; DNA ligation and nucleic acids hybridization techniques, necessary to understand more sofisticated and specific protocols;
2) Mutation detection techniques;
3) Mutation screening techniques and sequencing (including pyrosequencing and Next generation sequencing);
4) Genotyping techniques and applications (forensic analysis, transplants, farmacogenetics);
5) Qualitative and quantitative techniques for gene expression analyses, and for microbial/viral detection and identification, in order to provide information for diagnosis, prognosis, therapy and monitoring of therapy efficacy (including real time PCR, ddPCR, Next Generation Sequencing, Nanostring, branched DNA);
6) Molecular cytogenetics applied to the detection of cryptic chromosomal aberrations and to prenatal screening (NIPT);
7) Techniques for the analysis of DNA methylation defects at gene specific and genomic levels (cancer, imprinting defects).

The course will be enriched with several examples of application and will also provide a brief description of pathologies or potential ethiological agents where the specific techniques can be applied for diagnostic/prognostic purposes.
Students will be engaged in interactive discussion on selected “case reports” in which, after providing information needed to define the clinical setting, the competences acquired during the course will be used to choose the techniques best suited to answer the diagnostic query, taking into account limits, advantages and disadvantages of each technique and the data that will be necessary to include in the diagnostic report. Finally, students will have the opportunity to demonstrate their ability to critically read an article or guidelines from the scientific literature, regarding new diagnostic workflows/methods/tools and to present the deriving data in class.