Diagnostic methodology of clinical biochemistry and molecular biology

Module Diagnostic molecular methodology

The student is expected to have developed and consolidated the theoretical, scientific, and professional knowledge necessary to understand analytical methodologies for the analysis and identification of nucleic acids and their use in diagnostics. Specific areas of competence include the acquisition of knowledge of molecular methodologies used in the diagnosis of human diseases, with particular reference to cancer. The student is also expected to have acquired skills in the critical evaluation of results obtained through basic (PCR) and advanced (microarray and sequencing) molecular investigations, as well as the ability to understand and interpret comparable data reported in the scientific literature.

Taking into account the Dublin Descriptors, the expected learning outcomes are as follows:

1. Knowledge and understanding
At the end of the module, the student will have acquired theoretical and scientific knowledge related to the principles and applications of the main molecular diagnostic methodologies for the analysis and identification of nucleic acids. In particular, the student will be familiar with molecular techniques used in the diagnosis of human diseases, with specific reference to the oncological field, and will understand their theoretical basis, diagnostic purposes, and limitations.

2. Applying knowledge and understanding
The student will be able to apply the acquired knowledge to the interpretation and use of molecular diagnostic methodologies, both basic (PCR) and advanced (microarray and sequencing techniques), in the context of clinical diagnostics. The student will also be able to understand the rationale for selecting different methodologies in relation to specific diagnostic questions.

3. Making judgements
The student will have developed critical skills in the analysis and evaluation of results obtained from molecular investigations, being able to assess data reliability, identify potential methodological errors, and recognize interpretative limitations. The student will also be able to compare and critically evaluate experimental data and similar results reported in the scientific literature.

4. Communication skills
The student will be able to communicate clearly and appropriately information, results, and interpretations related to molecular diagnostic investigations, using scientific terminology that is suitable and understandable for both specialist and non-specialist audiences within the healthcare field.

5. Learning skills
The student will have developed autonomous learning skills that enable continuous updating of knowledge in the field of molecular diagnostics, including through the critical consultation of scientific literature, in a field characterized by rapid technological and methodological advances.

- 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