Science in short
The scientists at the Department of Molecular Genetics are 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 with gene defects in single genes. While in others only in a small fraction of patients' are genetic factors 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.
We aim at identifying genes (causal mutations) and genetic risk factors (predisposing polymorphisms) using different genetic approaches based on molecular genetic and genetic epidemiological approaches. Once a gene or genetic risk factor has been identified we estimate its contribution using population as well as hospital-based patient series. Also, we examine these genes and risk factors in relation to other genes as well as to environmental risk factors. Next, we model the mutations or polymorphisms in these genes in cellular systems or model organisms. 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.