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From genetic disease to functional genomics

Vak 2014-2015


Period: January 6 – January 24, 2014

This three-week course will take you through the successive steps in the identification and characterization of the gene defect(s) in various Mendelian and polygenetic 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.
Much emphasis is given to the functional consequences of the mutations in the DNA – RNA, protein and metabolites. 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 also other organisms like Drosophila, C. elegans and zebra fish are employed.
The ultimate goal of the functional studies is the identification of targets for the development of treatment and prevention strategies. Different therapeutic intervention strategies are under investigation and/or being tested in clinical trials.

The flow of the course is as follows:
In the first part of the course, a thorough theoretical overview of the various steps in gene discovery and functional characterization is given. Important issues like: collection and diagnosis of families and populations with a genetic disease, modern (genome-wide) gene identification strategies, functional assays and model systems are discussed in lectures, demonstrations and self-study assignments.
In the second part of the course, students participate, in couples, in ongoing disease-oriented projects at the Department of Human Genetics to get the flavour of the modern medical genetics and functional genomics work. In addition, students will be informed on how methodology discussed in the first week has resulted in state-of-the-art knowledge on various important human diseases.
The experience gained will be used to design research proposals to be presented at the end of the week in a mini-symposium.