Genomic Approaches in Human Diseases

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.

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

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.