21.03.2012Neurogenetics – from the laboratory to the practice of medical councelling

Dr. med Andrea Epplen, Human Genetics, Medical Faculty, Ruhr-Universität Bochum

Knowledge about the genetic causes of diseases has grown enormously during recent years. Researchers have identified genetical mutations for many diseases and developmental disorders of the brain. It was shown that genes play an important role in pathogenesis, but on the other hand they comprise only one component in a complex interaction of manifold and (mostly) unknown factors. This talk will give an insight into possibilities and limits of genetic diagnostics and refers to experiences from genetic consultation and supervision of affected families. Ethical consequences and concrete effects on the quality of life of affected patients will be shown using genetic testing on Huntington Disease as an example.