Dr Alan Robinson
1) To understand the mechanisms of mitochondria disease and the role of mitochondria in complex diseases, we are building computer models of metabolism. We use these to simulate metabolism under normal and diseased conditions. 2) The function of the mitochondrion is carried out by the proteins within it - its proteome. Many data sets of mitochondrial proteins have been collected, but each of these are noisy and incomplete. We are using machine-learning to assess these data sets and combine them into a more complete mitochondrial proteome. 3) Mitochondrial diseases affect about 1 in 10,000 live births. They are usually caused by genetic mutations in genes of proteins that are targeted to the mitochondrion. To identify these disease-causing genetic mutations in patients, we are using exome sequencing and an analysis pipeline.