Characterization and molecular investigation of pathogenesis in a novel model of human familial ALS.

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Amyotrophic lateral sclerosis, (ALS, also called Motor neurone disease) causes progressive paralysis due to the degeneration of motor nerve cells in the brain and spinal cord. People lose the ability to move their limbs, eat or speak and die from breathlessness, usually within 3 years of symptom onset. There is no effective treatment for the disease. ALS can occur in one individual or within families when a defective gene is passed down through the generations. No clinical characteristic differentiates the familial forms from the others. SOD1 is the most frequently involved gene and the study of SOD1 defects is an opportunity for understanding ALS disease mechanisms and to identify therapeutic targets. The purpose of this research project is to study a new mouse model which carries the exact same genetic defect as a group of ALS patients. We will characterize the disease progression in the mice and so we will use the mice to analyze the disease mechanisms in the motor nerve cells in the very early stages of disease. The discovery of underlying disease mechanisms is fundamental to the identifying drug targets for clinical trials, and the mice may also be used as a disease model to test new therapies.