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 concrete clinical situations:
Select and justify the molecular biology technique most appropriate for a given clinical situation, providing a rationale based on the clinical question being addressed.
Interpret simple experimental results and clearly explain the reasoning underlying their interpretation.
Discuss the clinical implications of the results obtained, including their limitations and their diagnostic or therapeutic significance.
Communicate and articulate scientific reasoning in a clear, structured, and rigorous manner, using appropriate scientific terminology.
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, main 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.
(Subject to minor changes throughout the year)
1.Introduction to Molecular Diagnostics
Foundations of Molecular Diagnostics
Review of Human Genetics
2.Molecular Biology Techniques
Hybridization-based 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
*This topic will be covered subject to time availability.
Interactive lectures: presentation of the theoretical foundations, principles, and characteristics of the main molecular biology techniques, with regular engagement of students through questions and discussions.
Illustration through clinical cases: contextualisation of molecular biology techniques using concrete diagnostic scenarios, accompanied by detailed examples of the analysis and interpretation of experimental results.
The assessment consists of a written examination comprising:
open-ended theoretical questions covering the principles, characteristics, and applications of the molecular biology techniques addressed in the course unit;
a clinical case study designed to assess the student’s ability to analyse a situation, select and justify the appropriate techniques, interpret experimental results, and discuss their significance and limitations.
PPT presentations available on Webcampus.
Thompson & Thompson : Genetics and Genomics in Medicine
Buckingam : Molecular Diagnostics: Fundamentals, Methods and Clinical Applications
| Training | Study programme | Block | Credits | Mandatory |
|---|---|---|---|---|
| Master in Biomedical Sciences | Filière en gestion de la recherche clinique | 1 | 3 | No |
| Master in Biology | Standard | 1 | 3 | No |
| Master in Biomedical Sciences | Filière en recherche fondamentale et préclinique | 1 | 3 | Yes |
| Master in Biochemistry and Molecular and Cell Biology | Finalité spécialisée | 1 | 3 | Yes |
| Master in Biochemistry and Molecular and Cell Biology | Finalité approfondie | 1 | 3 | Yes |
| Master in Biomedical Sciences | Standard | 1 | 3 | No |