Learning outcomes

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

Goals

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

Content

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.

Table of contents

(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

Teaching methods

Lectures: PowerPoint presentations and interactions with students

Assessment method

Written exam including open theoretical questions and a case study (analysis, interpretation, justification of technical choices).

Sources, references and any support material

Thompson & Thompson : Genetics and Genomics in Medicine

Buckingam : Molecular Diagnostics: Fundamentals, Methods and Clinical Applications


Language of instruction

French
Training Study programme Block Credits Mandatory
Bachelor in Biomedical Sciences Standard 0 3
Bachelor in Biomedical Sciences Standard 3 3