Dr Tothill is head of the Rare Disease Oncogenomics Laboratory within Department of Clinical Pathology and the Centre for Cancer Research at the University of Melbourne. He received his PhD in 2005 under the supervision of Prof David Bowtell at the University of Melbourne and Peter Mac. Preceding this time he was a research scientist working on genomic technology development at Glaxo-Welcome (UK). Since 2001 he has established a career in the field of cancer genomics. His work has been highly translational with a heavy focus on the development and adoption of breakthrough genomic technologies for discovery and clinical applications. His highly cited research has included development of diagnostic methods for cancers of unknown primary and the seminal discovery of high-grade serous ovarian cancer subtypes. More recently he has established research projects on rare diseases including Merkel cell carcinoma, phaeochromocytoma/paraganglioma and other neuroendocrine malignancies.