By the end of this course, the student should be able to:
Explain the underlying principles, procedural steps, and key characteristics of various molecular biology techniques covered in the course, using precise and discipline-specific vocabulary
Apply this knowledge of molecular biology techniques to real-world clinical scenarios by:
Identifying the most appropriate method for a given clinical case and providing a justified rationale for this choice
Interpreting simple experimental results through structured and logical reasoning
Discussing the potential clinical implications and limitations of the obtained results
Explain the principles of molecular biology techniques
Develop skills to choose and justify the use of appropriate techniques in specific clinical situations
Critically analyze experimental results and draw relevant conclusions
This course aims to familiarize students with the foundations, techniques, and clinical applications of molecular diagnostics. It enables an understanding of how molecular biology tools are used in the detection of genetic abnormalities, cancers, infectious diseases, and in prenatal diagnosis. If time permits, a discussion on the ethical and regulatory aspects related to medical genetics will also be addressed.
(Subject to minor changes throughout the year)
1.Introduction to Molecular Diagnostics
Foundations of Molecular Diagnostics
Review of Human Genetics
2.Molecular Biology Techniques
PCR and its derivatives
Post-Amplification Detection Techniques
Sequencing
3.Clinical Applications in Molecular Diagnostics
Targeted Polymorphism Screening
Molecular Diagnosis of Constitutional Diseases
Molecular Diagnostics and Cancer
Prenatal Molecular Diagnosis
Diagnosis of Infectious Diseases
4.Ethics and Regulation in Molecular Diagnostics
Ethical Considerations in Genetic Diagnosis
Regulatory Standards and Guidelines
Lectures: PowerPoint presentations and interactions with students
Written exam including open theoretical questions and a case study (analysis, interpretation, justification of technical choices).
Thompson & Thompson : Genetics and Genomics in Medicine
Buckingam : Molecular Diagnostics: Fundamentals, Methods and Clinical Applications
| Training | Study programme | Block | Credits | Mandatory |
|---|---|---|---|---|
| Master in Biochemistry and Molecular and Cell Biology, Teaching focus | Standard | 0 | 3 | |
| Additional teaching units for the master's degree in biomedical sciences (420P) | Standard | 0 | 3 | |
| Master in Biology | Standard | 0 | 3 | |
| Master in Biochemistry and Molecular and Cell Biology, Professional focus | Standard | 0 | 3 | |
| Master in Biochemistry and Molecular and Cell Biology, Research focus | Standard | 0 | 3 | |
| Additional teaching units for the master's degree in biomedical sciences (420P) | Standard | 1 | 3 | |
| Master in Biology | Standard | 1 | 3 | |
| Master in Biochemistry and Molecular and Cell Biology, Professional focus | Standard | 1 | 3 | |
| Master in Biochemistry and Molecular and Cell Biology, Research focus | Standard | 1 | 3 | |
| Master in Biochemistry and Molecular and Cell Biology, Teaching focus | Standard | 1 | 3 |