Our first webinar for 2022 was held on Thursday 26th May, and was 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.
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 explored 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 was explored and how this led to the discovery of VP-001 to treat RP11 is discussed.
You can watch a recording of the event here: