Mitochondrial mysteries
Australian Life Scientist: They are diseases most people haven’t heard of: Kearns-Sayre syndrome, Leber’s hereditary optic neuropathy, Leigh syndrome or MELAS. Neither had Associate Professor David Thorburn until he “inherited” the mitochondrial disease research group at the Murdoch Childrens Research Institute (MCRI) in Melbourne on his return to Australia from the USA in 1990. He is now recognized internationally as a leader in the field, has published over 100 related scientific journal articles and been involved in the difficult diagnosis of more than 400 patients who have malfunctioning mitochondria.
