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From genetic disease to functional genomics



Period: This course will not be taught in 2010-11, but in 2011-2012. The description below is indicative for the course contents but may be updated by May/June 2011.

This three-week course will take you through the successive steps in the identification and characterization of the gene defect in various Mendelian and complex genetic disorders. Both fields are main research lines at the Department of Human Genetics, covering neurological and neuromuscular disorders, colon, breast and skin cancer, cardiovascular and kidney disease, and hemoglobinopathies.
People rarely get ill from their primary mutations and mostly from the ensuing cascade of disturbed processes. Thus, subsequent to gene and mutation identification, the functional consequences need to be studied in various in vitro and in vivo model systems. Our main emphasis lays on transgenic and (conditional) knock-out mouse models but increasingly also other organisms like Drosophila, C. elegans and zebra fish are employed.
The ultimate goal of the model systems is the development of treatment and prevention strategies.

The flow of the course is as follows:
In the first week, theoretical and practical aspects of family studies, diagnosis, linkage analysis, bioinformatics, gene identification, functional assays and model systems are discussed in lectures and self-study design.
In the second week, students participate, in couples, in ongoing disease-oriented projects that are ongoing at the Department of Human Genetics to get the flavour of the modern medical genetics and functional genomics work. In addition, they will be informed on how methodology discussed in the first week has resulted in state-of-the-art knowledge on various important human diseases.
In the third and last week, the experience gained will be used to design research proposals to be presented at the end of the week in a mini-symposium.