Description of content
Many human diseases have a (partly) genetic aetiology. For some diseases, a single mutation is enough (the monogenic diseases), while for other diseases accumulation of dozens of mutations is needed to cause the disease (the multifactorial diseases). The search for genetic variants causing monogenic diseases, such as cystic fibrosis, forms of deafness and blindness, Huntington’s disease etc., has been going on for decades, but recent technical developments have given this effort a new impulse. The multifactorial diseases, such as diabetes, rheumatoid arthritis, Parkinson’s disease and many more, have attracted ever more scientific attention over the past ten years or so. Firstly because they are often common, with a life-long risk of developing such a disease of 60%, because of which they are a major burden to society. Secondly, because new developments in technology have made it possible to detect the relatively weak genetic risk factors that are predicted to underlie these complex diseases.

In this course, we will introduce the approaches taken to discover disease-related genetic variants for diseases with different genetic architecture, and we will show what technology is currently available. We will discuss the (population genetic) theory behind these studies and give an overview of the results so far. Exercises will give the student hands-on experience in analysing experiments. At the end of the course the student will be able to design a valid study to search for disease-related genetic variants.