WA researchers delivering on the promises of ocular gene therapy

Research started more than 20 years ago by staff of the Lions Eye Institute and associated entities in Perth into the genetic bases of certain eye diseases, is bearing fruit.
In 2011 the LEI revealed that it was well on the way to unlocking the genetic code for primary open-angle glaucoma while more recently, and perhaps more importantly, it has announced a partnership with a United States-based biotechnology company (Avalanche Biotechnologies Inc, a privately-held San Francisco company) that has taken its recent research for a genetic treatment for ‘wet’ AMD to human clinical trials – a world first.
Avalanche Biotechnologies Inc has raised ($A80 million) from New York venture capitalists.
Gene therapy was defined very simply by Stoddart et al. (2006) as the in vivo transfer of DNA for therapeutic purposes. While the concept is not new, having been first postulated in 1972, it was 1990 before approved trials were undertaken anywhere, none for eye diseases.
Other terms used to describe the process as it relates to eyes specifically include ocular gene therapy or, more recently, optogenetics (McGrath, 2014).
Most current projects (ocular and other) focus on those diseases that are attributable to just one defective gene, e.g. cystic fibrosis, haophilia, muscular dystrophy, thalassaia, sickle cell anaia, Leber’s congenital amaurosis, and some forms of AMD.
Those caused by defects in multiple genes, especially if the array of genes varies, despite the disease being the same apparently, represent a greater challenge and will probably have to wait for the discipline to mature further.
The ongoing work at the LEI involves, or has involved, key staff such as Prof Ian Constable, founder of the LEI, Winthrop Prof Elizabeth (Piroska) Rakoczy, head of the Molecular Ophthalmology/Centre for Ophthalmology and Visual Science, University of Western Australia, Dr Lyndon da Cruz, Prof David Mackey, managing director of the LEI, as well as other LEI staff.