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The neurogenetics laboratory uses a range of molecular genetic tools to help further our understanding of the genetic basis of neurological disease. There are close links between the researchers in the lab and the clinical diagnostic service of the National Hospital. The laboratory focuses on identifying variants in DNA sequence which contribute to the pathogenesis of a range of disease states. The approach varies with the nature of the genetic load. For high penetrance variants which cause mendelian forms of neurological disease classical positional cloning approaches have been successful (see below) and we have recently identified genes responsible for Parkinson’s disease and a form of dominant ataxia. However one of the major challenges facing human disease genetics is how bets to identify genetic risk factors or susceptibility genes for common diseases. Population approaches have recently emerged as an indispensable component of genetic research in neurology as in other disease areas. These approaches use case control studies which are ideally suited to the common neurological conditions, but require close co-ordination between clinical, statistical and genetics researchers. The longer term aim is to not only provide valuable information concerning the neurological conditions, but to understand the molecular pathways involved in these disorders.
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