A research breakthrough by University of Otago clinical geneticist Prof Stephen Robertson is shedding new light on the role of genetics in the development of cancer.
He achieves a rare academic trifecta today, with the publication of his third paper in five years in the prestigious scientific journal Nature Genetics.
The latest research involves the discovery of a genetic link between a rare bone formation disorder and a childhood kidney cancer known as Wilms Tumour.
Fellow lead authors of the paper are PhD student Margriet van Kogelenberg and Research Fellow Dr Zandra Jenkins - both of Otago's Clinical Genetics Research Group.
The findings involved two relatively rare disorders, but had significant implications for understanding the role of genetics in the development of cancer generally, Prof Robertson said.
Insights were also provided into the maintenance of skeleton health, which was significant given continuing concerns about osteoporosis.
"It's fleshing out our understanding of the biology," he said.
The Otago findings had already sparked considerable international interest after being discussed at a recent scientific gathering in England.
Prof Robertson's research focuses mainly on the underlying causes of congenital malformations, and particularly a family of rare genetic conditions affecting the formation of the skeleton, face and limbs.
By finding the particular genes which have mutated to lead to these disorders, he aims to better understand them and other more common sporadic birth defects, which affect about one in 30 children born in New Zealand.
Prof Robertson, who holds the Cure Kids chair in child health research, said researchers had been studying a condition which, in females, manifested as a combination of deafness, cleft palate, and the formation of dense, thickened bones throughout the skeleton.
Boys were born with multiple abnormalities of their skeletons and internal organs and died soon after birth.
Otago researchers had discovered that the skeletal disorder was caused by the same genetic defects found in Wilms tumour, the latter affecting about one in every 15,000 children worldwide.
A crucial clue about a key gene's location had come from a girl - now aged 5 - living in Seattle, in the United States, after the clinician looking after her had written to ask Prof Robertson if he could shed any light on her condition.
Initial Otago testing did not reveal anything, but, after recent advances in genetic technologies, her sample was re-tested a year ago and a defect in the X chromosome was found.
The discovery would not affect the child's quality of life, but her family now had an explanation and an understanding of the likelihood of other family members being affected.
