Chair of Child Health - Professor Stephen Robertson

BMedSci, MBChB (Otago), FRACP, DPhil (Oxford)
Department of Women’s and Children’s Health
Dunedin School of Medicine
University of Otago, Dunedin

 

Key highlights for 2010:

• Awarded the Liley Medal by the Health Research Council of New Zealand for an Outstanding Recent Contribution to Medical Research for the work on WTX gene
• Invited to be keynote speaker at the Australasian Bone and Mineral Research Society Annual Scientific Meeting
• Obtained Marsden Fund grant to continue collaborative work on the FLNA gene and its biology
• Identified the cause of three other diseases
• Found a family in New Zealand that segregates the commonest cause for liver transplantation in the Western World, including New Zealand

 
 

Review of 2010

In 2010 Professor Robertson was awarded the Liley Medal by the Health Research Council of New Zealand for an Outstanding Recent Contribution to Medical Research for his work on the osteogenesis gene WTX.

In addition, his team’s work on WTX and its implication in both constitutional skeletal disease and cancer continued with one paper being published this year in the Journal of Medical Genetics (see Publications). The Cure Kids Kirsty McDermott scholar, Sarah Holman, is studying aspects of this gene’s function as part of her PhD studies.

Their work on replicating the bone accrual effect that inactivating WTX has on speeding up bone healing in model animal systems continues but is progressing slowly. This slow progress is largely due to the work’s complexity, and while they seek funding and the timelines for confirmation of the patent in several jurisdictions are evaluated.

The team also identified the cause of three other diseases using radically new DNA sequencing methodologies.  These findings promise to be high impact findings which they will publish in 2011.

Due to the international recognition of their work, the research team continues to be in receipt of several hundred specimens from individuals and families from around the globe with conditions that lie within the broad areas of their interest – namely malformations that affect the brain and skeleton.  Their analysis and study of them is leading to high quality definitive publications as well as providing an invaluable service to families and individuals worldwide. One such family is a large Maori family in the Bay of Plenty (see Research projects)

Professor Robertson obtained a Marsden Fund grant (value $840,000) in conjunction with researchers at Massey and Auckland to continue their work on FLNA and its biology in 2011.

Professor Robertson was invited to be keynote speaker at the Australasian Bone and Mineral Research Society Annual Scientific Meeting in Melbourne in November.

Professor Robertson also serves on the Medical & Scientific Advisory Committee