The development and interfacing of neuropsychological testing in mice and humans to advance gene investigations into WBS

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Genetic approaches currently available in the mouse make this organism powerful for functional analysis of important genes and for defining molecular pathways underlying the pathogenesis of human disease. By ?engineering? mice to carry the same genetic defects as human patients we can study the resulting neurological and behavioural impairments in ways not possible in humans. But some subtle effects may be missed because current mouse tests may not assess the correct behavioural domains. Indeed human/mouse comparisons are often impossible because the tasks used are completely different. The pathological role of key genes are then missed and may be excluded from investigations into brain development. Individuals with Williams syndrome display problems in motor actions, anxiety, social behaviour, learning and memory, but the separate contributions from the different genes known to be involved are unknown. By developing tasks as similar as possible to those impaired in the patients and testing mice carrying mutations in specific Williams syndrome genes, we can investigate the separate contributions from each gene. The resulting comparisons will help us understand exactly what is going wrong in the patients, and may give clues to eventual remediation methods.