MOLECULAR PATHOLOGY AND ADVANCED DIAGNOSTICS LABORATORY
Academic Year 2025/2026 - Teacher: LUCA FALZONEExpected Learning Outcomes
The aim of the course is to provide knowledge and application bases of the main laboratory diagnostic methods, with particular reference to molecular investigation methods. Furthermore, the course will provide in-depth knowledge of the molecular bases of pathologies, with particular reference to genetic and oncological pathologies.
Course Structure
The teaching activity will be frontal and integrated with some seminars and laboratory exercises. Further in-depth material will also be distributed (scientific articles on specific topics).
Required Prerequisites
Knowledge of basic scientific subjects (general pathology, biology and molecular biology)
Attendance of Lessons
Mandatory
Detailed Course Content
The course aims to deepen the molecular bases of pathologies with particular reference to genetic and oncological pathologies. The role of molecular alterations in the prognosis and response to treatment of pathologies will also be explored. Finally, the main molecular techniques applied to laboratory diagnostics will be discussed, such as 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
Patogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore
Course Planning
| Subjects | Text References | |
|---|---|---|
| 1 | Introduction to the course: Molecular pathogenesis of diseases | Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - GullettaPatogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore |
| 2 | Hereditary-familial tumors | Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - GullettaPatogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore |
| 3 | Molecular Oncology 1 | Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - GullettaPatogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore |
| 4 | Molecular Oncology 2 | Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - GullettaPatogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore |
| 5 | DNA Methylation and Pathological Implications | Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - GullettaPatogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore |
| 6 | Alteration of non-coding RNA and pathological implications | Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - GullettaPatogenesi-Basi genetiche e molecolari delle malattie. Piccin. Autori Ruggero Pardi - Pier Paolo Di Fiore |
| 7 | Extraction and purification of nucleic acids and their analysis through PCR | Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta |
| 8 | nested PCR and Real-Time PCR | Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta |
| 9 | droplet digital PCR and its applications | Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta |
| 10 | Microarray platforms | Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta |
| 11 | First-Generation Sequencing Techniques | Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta |
| 12 | Next-Generation Sequencing Techniques | Medicina di Laboratorio - Logica & Patologia Clinica. Piccin. Autori Antonozzi - Gulletta |
Learning Assessment
Learning Assessment Procedures
The student's preparation will be assessed through an oral exam on the topics covered in class or during laboratory exercises.
Examples of frequently asked questions and / or exercises
- 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 next-generation sequencers
- What are the main molecular pathways altered in colon cancer?
- What is the effect of different mutations in the EGFR gene in lung cancer?