Students of the Master’s Programme in Translational Medicine, exchange students in the Faculty of Medicine (MD curriculum) and the students of the Systems Biology and Medicine study track in the Master’s Programme in Life Science Informatics. The maximum intake for the course is 30 students.

After completing the course, the student will be able to explain the main points in the clinical and molecular background of representative Mendelian, mitochondrial and chromosomal conditions and to understand the importance of ethical issues relating to the use of genetic information and procedures. Students should also be able to compare different genetic methods and select the appropriate databases and tools to be used in genetic analysis, DNA testing (including prenatal and pre-implantation diagnosis), predictions and diagnostic testing. In addition, students should be able to discuss the multifactorial nature of many human diseases and their traits, and the genetic and epigenetic principles in cancer predisposition, autoimmunity and psychiatric diseases.

Period II, 1st study year. The course is organized annually.

This course gives an overview of modern medical genetics in the form of lectures supported by a patient interview, a learning diary and a poster session. The course will enable students to understand the main genetic principles and their applications in translational medicine. The topics of the lectures cover all parts of medical genetics from bench to bedside. The topics covered include

- Current trends in clinical genetic testing
- Clinical genetics and genetic counselling
- Connective tissue disease
- Prenatal diagnosis
- Finnish disease inheritance
- The genetics of osteoporosis
- Cancer genetics and clinical cancer genetics
- Epigenetics
-Multifactorial inheritance and common diseases

Review articles (or book chapters where appropriate) are associated with most lectures; these are provided during the course and updated annually as necessary.

Suggested supplementary reading: Read A, Donnai D: New Clinical Genetics, 3rd edition, Scion Publishing Ltd, 2015.

The course covers all topics in several ways: lectures introduce the theoretical basis of medical genetics, and the learning diary gives the students the opportunity to reflect on the topics. The patient interview is a unique possibility to learn about rare diseases. The poster session and the student’s poster presentation introduce group learning. The lecture slides and any other material presented during the course and the self-study material will be available online directly after the lecture.

The assessment will be carried out based on lecture activity, learning activity, the patient interview and the poster session with a presentation.

Grading scale: Pass/fail

The responsible teacher of the course is docent Minna Pöyhönen.

Active attendance in each teaching session is required.

Completion requires 80% attendance in lectures, a learning diary covering a minimum of 80% of the lectures, 100% attendance in the patient interview and 100% attendance in the poster session including a presentation.

Replaces course 30512 ABC of Medical Genetics