Description of content
Most human diseases have, in part, a genetic basis. For monogenic diseases, a single DNA mutation is sufficient to cause disease, whereas a large number of DNA variants are likely to play a role for increasing one’s susceptibility to 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 pinpointing the genetic basis for multifactorial diseases has been unsuccessful until recently. Multifactorial diseases, such as diabetes, rheumatoid arthritis, coronary artery disease and many more, affect millions of people around the globe, and have attracted increasing scientific attention over the past ten years or so. New technological developments have made it possible to interrogate large numbers of individuals and to detect genetic risk factors with modest effect sizes that are predicted to underlie these complex diseases. These new approaches (specifically, next-generation sequencing) are now also routinely applied for research in the context of monogenic diseases (where the root causes have not yet been identified) and for diagnostics and patient care.
 
In this course, we will introduce the approaches taken to discover genetic variants related to disease with an emphasis on the genetic architectures for monogenic and multifactorial diseases. We will present an overview of the various technologies currently available. We will discuss the (population genetic) theory behind genetic disease studies and illustrate results for specific diseases. Exercises will give the student hands-on experience in the design and analysis of genetic disease studies.