Project: How do changes in the C9orf72 gene cause motor neuron disease?
Life in the Lab
Many people took part in the ‘Ice bucket challenge for ALS’ in 2014. For most patients with ALS the cause of the disease is unknown (sporadic). For 10% it is due to altered DNA inherited from their parents (familial). The focus of my research is an inherited form that affects ~40% of people with familial ALS. They have unusual alterations to a gene called C9orf72. Interestingly, some patients who have sporadic ALS also have these changes in the gene C9orf72.
In the laboratory I work with cells, grown in dishes, in order to try and understand the mechanism of disease in C9orf72 patients. There are many questions yet to answer including: What is the normal function of C9orf72? What is the mechanism of toxicity? Why is this change toxic to motor neurons and not other neurons in the brain? And importantly, how can this toxicity be overcome?
Life outside the Lab
In my spare time I like to play sports. In the winter I play dodgeball with a team from the MRC. In the summer the same team plays softball at Hyde park. I also enjoy playing Squash, smashing the ball off the walls is a great stress relief.