At the end of the course the student is able to:

• appreciate the numerous ways by which genetic defects can lead to disease and which options for therapy exist.
• understand the introduced diagnostic techniques and research approaches, which currently are used to detect molecular defects and identify the molecular basis of the resulting disorders.
• prepare a script and give a presentation to show training in literature-based research and presentation skills.

In this course, the students will be introduced to the molecular mechanisms of disease, for a number of genetic, immunologic and metabolic disorders. As such, the course is divided into three parts: Genetics, immunology and metabolism. In every subject, researchers will present disease-related subjects that are closely related to their own research. In comparison to other courses, this course is therefore less textbook-based and also less coherent, but instead presents state-of-the-art research results on a selection of highly relevant topics.
It will become clear, that in some cases, there is a direct relation between a disorder and a genetic defect. In other cases, such as in many immunological disorders, profound knowledge on the underlying molecular processes is required, even though there may still be a genetic predisposition.
Ultimately, the students will obtain an idea on the diversity of the molecular mechanisms underlying various pathologies and potential therapeutic approaches. Diagnostic techniques and analytical methods will be introduced as part of the lectures and during practical demonstrations. Where required, fundamental background knowledge will be introduced.
The preparation of a script and a presentation over one subject is an important element of the self studies. The presentations will be given towards the end of the course. Both, script and presentation are prepared in groups of 3 students. The subjects directly relate to one of the main themes of the course.
Presence is obligatory during the introductory lecture, the distribution of subjects for the scripts/presentations, the practical demonstrations, the presentations and the exam. Furthermore, presence during the lectures and feedback sessions is strongly recommended. This course is not textbook-based. Therefore, students will learn best by having maximum contact with the faculty. Handouts of all lectures are provided via Blackboard.