Course content

Eric Moses will be giving most of the lectures. He is working at the Southwest Foundation for Biomedical Research in Texas and he is collaborating with the Reproduction Group at IKM, studying genetics in development of pre-eclampsia. His research group is among the world’s best in complex genetic diseases.

Human genetics is currently witnessing a ‘genome mining goldrush’. The discovery of genetic risk factors for common human diseases such as diabetes, cardiovascular disease, asthma, psychiatric disorders and cancer, among others, is now regularly featured in the top-ranked scientific journals and there is mounting optimism that with this knowledge new treatments (and diagnostics) will be developed thereby dramatically changing the course of human life.

In this series of lectures we will review the state-of-the-science that is making this possible. We will focus on genome-wide strategies including association scans with high density SNP panels in population samples versus linkage analysis in affected families. We will also discuss convergent strategies that combine linkage/linkage disequilibrium analysis with whole genome transcriptional profiling and bioinformatics to prioritize candidate genes for re-sequencing to identify the most likely functional polymorphisms. The high-throughput genotyping, expression profiling and DNA sequencing methodologies and the statistical genetics analysis methods that are underpinning these studies will be discussed.

Learning outcome

To give candidates insight in theoretical and methodological approaches in the field of genetics and human diseases, including both monogenetic – and complex genetic diseases.

Learning methods and activities

The course will consist of lectures, plenary discussions and group sessions. The course will provide rich opportunities to establish the knowledge required to choose the right approaches with regards to study design, gene analysis and data analysis.

Compulsory assignments

• Group reports

Required previous knowledge

Master degree or similar. Students working with their master degree. Medical students at The Student Research Programme. Candidates with a lower degree will be assessed individually.

Course materials

Balding DJ. A tutorial on statistical methods for population association studies. Nat Rev Genet. 2006 Oct;7(10):781-91.
Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet. 2003 Mar;33 Suppl:228-37.
Brinkman RR, Dubé MP, Rouleau GA, Orr AC, Samuels ME. Human monogenic disorders - a source of novel drug targets. Nat Rev Genet. 2006 Apr;7(4):249-60.
Rockman MV, Kruglyak L. Genetics of global gene expression. Nat Rev Genet. 2006 Nov;7(11):862-72.
Steemers FJ, Gunderson KL. Whole genome genotyping technologies on the BeadArray platform. Biotechnol J. 2007 Jan;2(1):41-9.
Wadman, M. Genome miners rush to stake claims. Nature. 2007; 447: 623
Watkins H, Farrall M. Genetic susceptibility to coronary artery disease: from promise to progress. Nat Rev Genet. 2006 Mar;7(3):163-73.