Retina Australia is again running our popular webinars throughout 2021. Featuring a wide variety of topics, these events are free for all our members around Australia to access the latest information in IRD research, assistive technologies, and personal stories from those living with IRDs. See below for links to videos of our previous webinars.
Research Update from Retina Australia Grant Recipients
Date: Thursday 27th May
Time: 2pm (AEST)
This webinar will be presented by two of our 2020 grant recipients, Dr Andrea Vincent and Dr Raymond (Ray) Wong.
Determining the spectrum of X-Linked Retinal Dystrophies In New Zealand, presented by Dr Andrea Vincent
With the promise of gene replacement therapy, both eligible males and females with X-linked inherited retinal dystrophy (XL-IRD) should be identified.
From the NZ database of Inherited retinal disease we identified 27 probands and their families with molecularly proven XL-IRD due to RP2 or RPGR mutations. 55% of the families had novel variants, and in families were of Polynesian ethnicity, 80% were novel.
Significant disease was present in 1/3 of genetically proven female carriers, often leading to an erroneous presumption of the inheritance pattern. The ethnic mix of New Zealand may partly explain the genetic and phenotypic heterogeneity.
Restoring vision: Development of a gene therapy to regenerate photoreceptors, presented by Dr Raymond Wong
Photoreceptors are specialised cells at the back of our eye that are responsible for light detection. Degeneration of photoreceptors is a common hallmark of many blinding diseases, such as retinitis pigmentosa, age-related macular degeneration and Stargardt’s disease. Currently, there is no cure to blindness once the photoreceptors are lost.
Regenerative medicine represents an attractive strategy to regenerate and replace the photoreceptors loss in blinding diseases. In this talk we will discuss the potential of stimulating stem cells within the eye to regenerate photoreceptors and restore vision, as well as the development pathway to translate this research into a gene therapy to help patients with vision impairment.
About the Presenters:
Dr Andrea Vincent
Dr Andrea Vincent BHB, MBChB, MD, FRANZCO is a New Zealand trained ophthalmologist Clinician-Scientist, with overseas fellowship training in Ocular Genetics, to become the first Molecular Ophthalmologist in New Zealand, and is an Associate Professor in the Department of Ophthalmology, New Zealand National Eye Centre, University of Auckland. She sees paediatric and adult patients both in public at Greenlane Clinical Centre, Auckland, and in private practice.
She established, and is lead investigator of an Ocular Genetic Research facility in the department which undertakes research projects into the genetics eye disease including inherited retinal and optic nerve diseases. A database for Inherited Retinal diseases has over 1200 participants. The team are modelling retinal disease in zebrafish, and in conjunction with research collaborations nationally and internationally aim to elucidate the novel and outstanding mutations in this NZ cohort. Dr Vincent has 78 peer reviewed publications, 3 book chapters, is on the board of the ORIA, and on the editorial board of Ophthalmic Genetics and Orphanet Journal of Rare diseases.
Andrea, who is Associate Professor of Ophthalmology at Auckland University, and consultant ophthalmologist with the Auckland District Health Board, will present an update on her work with the retinal degradation associated with X-linked RPGR mutations.
Dr Raymond Wong
Dr Raymond Wong is a Principal Investigator at the Centre for Eye Research Australia (CERA), the University of Melbourne and a Guest Professor at Shenzhen Eye Hospital (China). He is a stem cell biologist with 18 years of research experience, specialising in cellular reprogramming and stem cells in eye research.
He completed his PhD in stem cell biology at Monash University and was awarded a California Institute of Regenerative Medicine Fellowship to pursue overseas postdoctoral training at the University of California Irvine (USA), and a Visiting Fellow Award to train at the National Institutes of Health (USA). In 2013, Dr Wong joined CERA with the support of a Cranborne Foundation Fellowship and subsequently established the Cellular Reprogramming Unit with the support of a MAWA Fellowship and a New Investigator Grant from the National Health and Medical Research Council.
Currently, Dr Wong’s research focuses on understanding the genetic signals that define retinal cells, and using cell reprogramming and stem cell technologies to study and treat retinal degenerative diseases.