Professor David Mackey has achieved international recognition as a genetic ophthalmologist having spent 20 years studying the genetics of the eye. In 2005 he was awarded a Pfizer Australia Senior Research Fellowship and in 2010 was an Alcon Research Institute Awardee. Before moving to Western Australia in 2009, he was Associate Professor at the University of Melbourne’s Department of Ophthalmology and Clinical Professor at the University of Tasmania.
He coordinated an international consortium to establish the frequency of Leber’s Hereditary Optic Neuropathy mutations in 130 pedigrees. His work identified two of the three main mutations and established the phenotype-genotype correlations (in particular genetic and age risk for visual recovery). In 1993 Professor Mackey initiated the Glaucoma Inheritance Study in Tasmania, thereby creating one of the largest glaucoma biobanks in the world that led to the discovery of the myocilin gene and its association with glaucoma. His group has also developed a model of cascade family screening for glaucoma.
The Twins Eye Study in Tasmania and Brisbane led by Professor Mackey has characterised the heritability of many ocular measurements and Genome Wide Association Studies have identified genes for myopia, corneal thickness, intra-ocular pressure optic nerve size and glaucoma. In 2007-8, he established the Norfolk Island Eye Study, examining 800 mixed race descendants of the Bounty Mutineers as part of a major genetic eye study. In Western Australia, he has collected ocular and environmental data on 2000 20-year old Raine Cohort participants. A new study begun in 2012 is examining the positive-negative effects of UV sun exposure.
- Company:The University of Western Australia
- Short Bio:Managing Director, Lions Eye Institute