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Positional cloning of a chromosome 16 dementia / motor neurone disease gene

We have identified a large pedigree with clinical symptoms of presenile dementia with motor neuron disease. We used the pedigree to identify the disease gene on chromosome 16, referred to as the PD16 gene. The aims of this project are to undertake the biological characterisation of this novel neurodegeneration gene. We will also utilise mutation carriers within the family to determine the earliest biochemical and structural changes in their brains using imaging techniques. We are also examining a panel of commercially available and clinically relevant agonists and antagonists to modulate key pathways involved in Alzheimer’s disease and other neurodegenerative disorders.