In Australia 112,000 people have wet age-related macular degeneration, with 8,000 new cases diagnosed every year.
With more than 20 years of support from NHMRC, Professor Elizabeth Rakoczy has spent her life dedicated to medical research. This dedication has been recognised and honoured with the CSL Florey Medal - awarded to an Australian biomedical researcher for significant lifetime achievements in biomedical science and/or human health advancement.
Professor Rakoczy received this award from her research into developing a gene therapy for wet age-related macular degeneration - one of the main causes of blindness in the developed world among the elderly.
This gene therapy has reversed vision loss in some clinical trial patients and will have a significant impact on the cost of treatment as it reduces the number of injections to just one.
‘I really accept this medal, the CSL Florey Medal, for my colleagues who have contributed. I had more than 50 scientists working in my lab,’ Professor Rakoczy said.
‘What we do is set up a bio-factory [using modified viruses as the gene therapy delivery vehicle] in the back of the eye. This bio-factory is producing a naturally occurring protein that can control the growth of blood vessels,’ Professor Rakoczy explained.
Abnormal growth of these blood vessels under the retina grows towards the macula—responsible for our central field of vision. The vessels tend to break, bleed and leak fluid, damaging the macula—often leading to a rapid and severe loss of central vision.
Professor Rakoczy first showed gene therapy could work in the healthy replacement of a mutated gene that caused degeneration of the retina in a dog model of a rare disease (Leber’s Congenital Amaurosis). Having established the longevity of gene expression she turned her attention from a rare disease to a common complex disease—wet age-related macular degeneration.
‘This project has been going in my laboratory from the basic research stage to clinical trials with continuous funding from NHMRC. It has been a long journey,’ she said.
Each injection of current treatment cost about $2,000, and patients have six to eight per year. This gene therapy offers an alternative treatment, with a single injection, and because the bio-factories remain operational, potentially for many years, the patient’s eyesight could be maintained without repeat injections.
This therapy is now licenced to a start up pharmaceutical company. This makes Professor Rakoczy one of an elite group of Australians to successfully take a research idea from ‘bench to bedside’ and commercialise it internationally.
Professor Rakoczy hopes that her bio-factory idea will be used for other diseases.