Rate My Professor Stephen Robertson

Professor Stephen Robertson is the Cure Kids Professor of Paediatric Genetics at the University of Otago, based in the Department of Women’s and Children’s Health, Dunedin School of Medicine. He earned his BMedSc and MB ChB from the University of Otago in 1990, followed by specialization in paediatrics in Auckland hospitals, serving as Chief Resident at Starship Children’s Hospital from 1995 to 1996, and clinical genetics training at the Victorian Clinical Genetics Service in Melbourne from 1997 to 1999. As a Nuffield Medical Fellow at the Weatherall Institute of Molecular Medicine, University of Oxford, he completed his DPhil from 1999 to 2002, investigating genetic causes of congenital malformations in children. In 2002, he returned to Otago to take up the inaugural Cure Kids Chair, establishing the Clinical Genetics Group. The chair was formalized as the Cure Kids Chair in Child Health Research in 2006 through partnerships with government and university programmes. He continues as a practising clinical geneticist with Genetic Health Services New Zealand and contributes to teaching in genetics programmes for medical and laboratory science students.

Professor Robertson’s research examines gene functions underlying structural birth defects, neurodevelopmental disorders, and intellectual disabilities in children, including studies on periventricular heterotopia, neural stem cell migration, and localised retinoic acid degradation. His team has advanced Māori genomics and equitable access to genomic medicine. Notable publications include Robertson et al. (2003) on filamin A mutations causing malformations in Nature Genetics; Krakow et al. (2004) on filamin B mutations affecting skeletogenesis; Jenkins et al. (2009) on WTX germline mutations; Simpson et al. (2011) on NOTCH2 mutations in Hajdu-Cheney syndrome; and Laue et al. (2011) on retinoic acid defects leading to craniosynostosis and skeletal anomalies, both in Nature Genetics and American Journal of Human Genetics, respectively. His discoveries have diagnosed rare disorders, such as lethal conditions in affected whānau. Awards include the 2022 Hercus Medal from Royal Society Te Apārangi for biomedical research and genomic medicine for Māori, Fellowship of the Royal Society, 2018 Dean’s Medal for Research Excellence, and Health Research Council Liley Medal.