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Investigation of pathological mechanisms underlying the childhood motor neurone disease Spinal Muscular Atrophy (SMA) and evaluation of new therapeutic strategies’. Supervisor Professor Thomas Gillingwater University of Edinburgh Spinal Muscular Atrophy (SMA) is the leading genetic cause of infant death, affecting around 1 in every 6,000 children. The condition is caused by loss of the Survival Motor Neuron (SMN) gene, which primarily results in a breakdown and loss of nerve cells (known as lower motor neurons) that connect the spinal cord to muscles. Although the underlying genetic basis of SMA is well established, at present there is no cure for this devastating form of motor neuron disease. This project, therefore, aims to investigate pathological mechanisms underlying SMA and evaluate potential new therapeutic strategies. We will use a combination of behavioural analyses, state-of-the-art imaging approaches and molecular technologies to uncover the underlying morphological and molecular basis of the disease, as well as utilise these approaches to assess the potential of various promising therapeutic strategies in mouse models of SMA. Both SMN-dependent and SMN-independent pathways will be targeted by use of drugs and gene therapy. This evaluation will provide further insight into the mechanisms underlying SMA pathology and may help to develop new treatments by identifying therapeutic approaches that are capable of delaying or halting the progress of the disease. Update 19/08/13 Professor Tom Gillingwater File:Updated-Project-Resume-Prof-Tom-Gillingwater-190813Final