Medical Genetics

7.5 credits

Syllabus, Master's level, 3MG011

Education cycle
Second cycle
Main field(s) of study and in-depth level
Medical Science A1N
Grading system
Fail (U), Pass (G), Pass with distinction (VG)
Finalised by
The Master Programmes Board of the Faculty of Medicine, 1 December 2022
Responsible department
Department of Immunology, Genetics and Pathology

Entry requirements

180 credits from educational programmes in biochemistry/chemistry, biology, biomedicine/medicine, biotechnology, cell/molecular biology, genetics, life science, medical sciences or a similar field of study. Also required is:

courses in biochemistry, cell biology, chemistry, genetics, and molecular biology/-genetics totalling at least 30 credits;

Proficiency in English equivalent to the Swedish upper secondary course English 6.

Learning outcomes

Knowledge and understanding

On completion of the course, the student shall be able to:

  • explain molecular and cellular mechanisms of the origin, development and diagnostics of genetic diseases including cancer
  • explain current techniques for research, diagnostics and treatment of genetic diseases
  • interpret and discuss current research in genetics and epigenetics and how new knowledge can be applied clinically

Competence and skills

On completion of the course, the student shall be able to:

  • independently analyse, process and formulate relevant scientific questions within the field of medical genetics, and discuss these orally as well as in writing
  • use basic laboratory techniques in genetic research
  • use basic bioinformatical tools

Judgement and approach

On completion of the course, the student shall be able to:

  • identify and discuss ethical aspects of genetic research, diagnostics and therapy
  • apply an ethical and scientific approach
  • show an ability to critically evaluate and appraise scientific research results within the field 


The course intends to provide in-depth knowledge of the human genome, genetic variations and underlying molecular mechanisms causing genetic diseases in man. Current clinical diagnostics and treatments of genetic diseases will be discussed as well as methods and techniques. The course will also provide an overview of the current genetic research. Theoretical sections and exercises will illustrate how molecular factors behind a disease can be determined. Methods for mapping of genetic diseases, genotyping using microsatellites and SNP markers as well as analysis of genetic variation in populations will be addressed, together with current techniques used for analysis of gene structure and function. Application of DNA analysis in genotyping will be illustrated. Ethical aspects will be discussed. A number of general science-related questions are discussed during joint seminars, which also include generic competences and professional skills such as presentation skills and research ethics, with the aim to prepare the student for future career.


Instruction is given in English in the form of lectures and mandatory seminars, laboratory exercises, computer practicals and other compulsory theoretical and practical exercises such as problem-oriented assignments and presentations related to current research fields.


A written exam is given at the end of the course. A passing grade for the course requires approved participation in all mandatory seminars, practicals, laboratory work as well as approved assignments (total 3.5 credits) and written exam (4 credits). The final grade is based on a weighted assessment of the student's achievement on included course components. Possibilities to complement non-approved mandatory components are given at the earliest during next course instance and will be subject to availability of space.

If there are special reasons for doing so, an examiner may make an exception from the method of assessment indicated and allow a student to be assessed by another method. An example of special reasons might be a certificate regarding special pedagogical support from the University's disability coordinator.