SEMINAR: �GWAS success in Ophthalmology."

Professor David Mackey has spent 20 years studying the genetics of the optic nerve. In 1993 Professor Mackey initiated the Glaucoma Inheritance Study in Tasmania, thereby creating one of the largest glaucoma biobanks in the world, with over 5,000 DNA samples and clinical material from familial and sporadic cases of glaucoma. This study has resulted in over 50 papers, including co-authorship on the discovery of the myocilin gene and its association with glaucoma. His group has also examined the impact of providing DNA testing and results to glaucoma families and is currently working on models of cascade family screening for glaucoma. In 2000 he started the Twins Eye Study in Tasmania and Brisbane to investigate the genetic and environmental factors contributing to the ocular biometry related to glaucoma and myopia. He also leads the Norfolk Island Eye Study, examining 800 descendant of the Bounty Mutineers, and in Western Australia runs the Raine Eye Health Study of 2,000 20-year olds from a birth cohort.