VIB Department of Molecular Genetics, University of Antwerp

The department of Molecular Genetics is specialized in the genetic analysis of complex neurological and neuropsychiatric diseases. All these diseases are multifactorial in nature i.e. they are expressed due to the interplay of genes and environment. In some of these diseases the inheritance pattern is mainly mendelian (e.g. CMT) with gene defects in single genes. In others only in a small fraction of patients genetic factors are apparent. In the latter cases, several families with mendelian inheritance have been identified (= monogenic component). In the majority of the cases the disease expression is modulated by complex gene-gene and gene-environment interactions. Our major aims are to identify novel molecular mechanisms for disease causation and effective drug treatment for these devastating diseases. We use different genetic approaches to identify genes (causal mutations) and genetic risk factors (predisposing polymorphisms) based on molecular genetic and genetic epidemiology approaches. The contribution of a disease gene is estimated in population and hospital based patient series. Also, we will examine these genes and risk factors in relation to other genes as well as to environmental risk factors. We model mutations or polymorphisms in cellular systems (e.g. stable cDNA transfectants) and mouse animal models. These systems allow us to understand the effect of mutations/polymorphisms on the normal functioning of the actual gene product. Also, the observed biological phenomena can be compared directly with those observed in patients. Finally, these models should allow us to test for treatment approaches.