It is a dream of many researchers who publish in scientific journals to have their work not just well received by peers, but cited numerous times and making a difference around the globe.
For Dr James Wilmott – the winner of this year’s Wildfire Highly Cited Publication Award – that was precisely the destiny of a landmark study he was involved in early in his career.
Whole-genome landscapes of major melanoma subtypes was published in 2017 in Nature, an international journal featuring peer-reviewed research in scientific technology. The project was a collaboration across Melanoma Institute Australia (MIA), QIMR Berghofer Medical Research Institute, and The University of Sydney, and the publication had about 50 co-authors.
“I’d just finished my PhD, and this was my first project as an early career research fellow for the Cancer Institute NSW,” Dr Wilmott says. “So it was an exciting time.”
Dr Wilmott is now research leader of the Translational Melanoma Research Group of MIA, National Health & Medical Research Council (NHMRC) research fellow, and Senior Lecturer at The University of Sydney.
What makes the publication unique?
The research project was a landmark whole genome sequencing study funded by the NHMRC, the NSW Government, the Cancer Institute NSW and philanthropic donations to the MIA.
It began in 2013, off the back of the Cancer Genome Atlas project, which was led by Professors Richard Scolyer, Graham Mann and Nicholas Hayward. The Atlas had sequenced more than 333 cutaneous melanomas. Dr Wilmott and his team saw an opportunity to perform whole-genome sequencing of mucosal and acral melanomas, in addition to cutaneous melanomas.
Mucosal melanoma affects internal body surfaces, such as the respiratory or gastrointestinal tracts, and acral melanoma occurs on the hands and feet. Both subtypes are less common than cutaneous melanomas, which start in the skin.
Tissue samples from 183 Australian patients were sourced from biobanks, including the MIA and Peter MacCallum Cancer Centre in Victoria. With the support of Bioplatforms Australia and using a new technique at the time, the research team sequenced every single nucleotide in the cancer genome. Computational biologists from QIMR and the Australian National University interrogated and analysed huge terabytes of the data, and clinicians helped to interpret what it meant for patients.
The analysis showed that mutations in cutaneous melanomas are associated with sun (UV) exposure, but acral and mucosal melanomas mutations can have different structures and mutation signatures unrelated to sun exposure. This had not previously been identified in melanoma.
“Our research really highlighted that melanoma is not one large cancer type. It’s actually made up of different molecular phenotypes relating to where the melanoma originates,” Dr Wilmott explains.
What is next?
“We have now sequenced over 600 whole genomes, and focused on different types of melanoma,” Dr Wilmott says. “For example, through a Cancer Institute NSW fellowship, we studied youth melanoma, sequencing patients diagnosed before age 30.”
The group has also done further research on mucosal and acral melanomas, to understand how these tumours are evolving and growing, and uveal melanomas (which affect the eyes). Their current research is on finding effective treatments for patients who aren’t cured with standard therapies, and using genomic data to develop better diagnostic tools and curative treatments.
Dr Wilmott and his team have received international recognition for their research in the clinical implications of genomic profiling, and the progress they have made so far keeps them motivated.
“We will keep working on finding cures for melanoma patients.” Dr Wilmott says.