Mitochondrial genomics in human health and diseases.(How variation in nuclear and mitochondrial DNA causes rare mitochondrial diseases and common late-onset human disorders)

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Mitochondrial diseases affect ~1 in 4300 people, cause major disability and mortality, and currently have no treatment. We are using genetic and cell biology methods to define new genes responsible for mitochondrial disorders, and to understand how they affect different organs in the body in different ways. We are interested in two key mechanisms: how genetic mutations of mitochondrial DNA (mtDNA) are inherited, how they are distributed throughout the body, and how mitochondria communicate with the cell nucleus. Our aim is to develop new treatments for these disorders, and ultimately to prevent these diseases from occurring.