Diagnostic methodology of clinical biochemistry and molecular biology
Module Diagnostic molecular methodology

Academic Year 2024/2025 - Teacher: LUCA FALZONE

Expected Learning Outcomes

The student must have developed and acquired theoretical, scientific and professional knowledge for the understanding of the analysis methodologies for the analysis and identification of nucleic acids and their use in diagnostics. The student must acquire specific areas of expertise in the knowledge of the molecular methodologies used in the diagnosis of human pathologies, with particular reference to tumors. Finally, the student must have acquired skills in the critical processing of the results obtained through basic (PCR) and advanced (microarray and sequencing) molecular investigations as well as understanding similar data present in the literature.

Course Structure

The teaching activity will be frontal and integrated with some seminars. Further in-depth material will also be distributed (scientific articles on specific topics).

Required Prerequisites

Knowledge of basic scientific subjects (biology and molecular biology)

Attendance of Lessons

MANDATORY attendance as established by the course regulations.

Detailed Course Content

The course aims to deepen the basic and advanced molecular diagnostic methods, namely the principle and functioning of polymerase chain reaction (PCR), nested PCR, real-time PCR, droplet digital PCR, microarray platforms and old and new generation sequencing platforms. These topics will be discussed from a technical and applicative point of view.

Textbook Information

Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta

Course Planning

 SubjectsText References
1Nucleic acid extraction and purificationMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
2PCRMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
3Nested PCR and various semi-quantitative PCR applicationsMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
4Real Time PCRMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
5Droplet digital PCRMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
6Application of droplet digital PCRMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
7Microarray PlatformsMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
8First-Generation Sequencing TechniquesMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
9Next-Generation Sequencing TechniquesMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta
10Other advanced diagnostic molecular techniquesMedicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta

Learning Assessment

Learning Assessment Procedures

La preparazione dello studente verrà valutata mediante esame orale sugli argomenti trattati a lezione.

Examples of frequently asked questions and / or exercises

- Characteristics and function of primers used in PCR

- Describe the operating principle of droplet digital PCR and how it differs from standard PCR methods.

- Types of microarray methods and description of the hybridization principle

- Technical and amplification and sequencing characteristics of new generation sequencers

VERSIONE IN ITALIANO