Developing the next gen of mito medicine

At a Mito Information Day, Dr Richard Lee spoke about his research using a combination of genetically edited cells and patient cells to understand the fundamental mechanisms underlying mitochondrial diseases. He has discovered a novel multi-system mitochondrial disease spectrum caused by newly discovered variants in the mitochondrial gene CRLS1. He researched how breakdowns in key mitochondrial functions drive disease pathogenesis and identified lipid and protein signatures that can be used to increase the speed and accuracy of diagnosing this new mitochondrial disease in the future.