Professor Stephen Robertson is the Cure Kids Professor of Paediatric Genetics at Otago University in Dunedin, New Zealand. He was educated at the University of Otago graduating in Medicine in 1990. He specialised in Paediatrics and Clinical Genetics after training in Auckland and Melbourne. From 1999 – 2002 he was the Nuffield Medical Fellow at the Institute of Molecular Medicine at Oxford University, studying the genetic determinants of congenital malformations in children. His work has led to the implication of several genes in the generation of malformations in children, with a particular focus on conditions that affect the skeleton and brain. He remains an active clinical geneticist as well as continuing his research into congenital malformations directing a team of researchers at the Dunedin School of Medicine where he has held his current position since 2002.
Career and Research Highlights
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Discovery and characterisation of the genetic basis of a broad group of disorders affecting the development of the skeleton, called filaminopathies
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Implication of a cancer predisposing gene, WTX in the cause of malformations of the skeleton and other organs in a disorder called osteopathia striata congenita with cranial sclerosis
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Studies implicating the importance of retinoic acid, a chemical derived from vitamin A, in the structure and development of the human skeleton
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Study and characterisation of genes that are altered to impair the development of the structure and function of the human brain
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Award of the Health Research Council of New Zealand’s Liley Medal for significant contributions in biomedical health research
