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 our upcoming events, and links to videos of our previous webinars.
Our first webinar for 2022 will be an update from two of our recent research funding recipients, Professor Alex Hewitt, University of Tasmania and Associate Professor Fred Chen, Lions Eye Institute, Perth.
Research Update from recent Retina Australia Grant Recipients
Date: Thursday 26th May
Time: 2.00pm, AEST.
Primetime for Inherited Retinal Disease Gene Editing, Professor Alex Hewitt
There have been a number of major advances in gene editing technologies. The genetic correction of variants leading to inherited retinal diseases is now readily achievable. This presentation will explore the current state of gene editing technology, and discuss the remaining barriers which need to be overcome, before gene editing is ready for primetime!
Looking for disease-causing mutations in families with dominant RP pedigrees, Associate Professor Fred Chen
Autosomal dominant retinitis pigmentosa (adRP) accounts for one third of patients with RP. In a Retina Australia funded project, genetic analysis of 41 families with dominant RP revealed a causative mutation in 32 families whilst 9 remained unresolved using a retinal dystrophy gene panel. The five most frequent genes encountered in families with adRP were PRPF31 (10 families), RHO (7 families), RP1 (4 families), HK1 (3 families) and PRPH2 (2 families). PRPF31 or RP11 has a unique feature in that some individuals carrying a mutation do not manifest retinal disease . In this talk, the reason behind RP11 non penetrance is explored and how this led to the discovery of VP-001 to treat RP11 is discussed.
About the Presenters:
Professor Alex Hewitt
Professor Alex Hewitt is a Principal Research Fellow at the Menzies Institute for Medical Research at the University of Tasmania, as well as a Principal Investigator at the Centre for Eye Research Australia.
His major research interest lie in the ophthalmic applications of stem cell and gene-editing technology. Alex obtained his PhD from Flinders University of South Australia in 2009, and completed formal Ophthalmology training at the Royal Victorian Eye and Ear Hospital.
Alex led the first report of viral mediated CRISPR/Cas editing in the retina.
Associate Professor Fred Chen
Associate Professor Fred Chen is an inherited retinal disease specialist at Lions Eye Institute and Royal Perth Hospital. His academic position is at the University of Western Australia and University of Melbourne.
Fred conducts several clinical trials in retinal diseases as the principal investigator and is the Head of the Ocular Tissue Engineering laboratory which focuses on translational research and drug development for genetic eye diseases.
Fred and his group has published over 200 peer reviewed papers and he serves on editorial board of international journals and advisory boards for several Pharma companies that develop novel treatments for retinal diseases. He is currently an investigator for treatment trials in Stargardt disease and Usher syndrome.