Professor Thorburn is one of Australia’s foremost genetics experts, with a focus on mitochondrial energy generation disorders, and is widely recognised as a world leader in inherited metabolic diseases. For the past 25 years, he has worked with children with disabling and potentially lethal mitochondrial disorders, discovering genes that cause these conditions and developing effective diagnostic tests to guide treatment. He has published over 150 research articles and his work is highly cited by researchers and clinicians (over 7,700 career citations). His standing internationally is also demonstrated by invitations to international conferences and invitations to participate in scientific advisory committees.