PATHOGENICITY, MODELLING & TREATMENT OF INHERITED RETINAL STARGARDT DISEASE
Dr Di Huang
Research Associate
Lions Eye Institute, Nedlands, Western Australia
RESEARCHER PROFILE
Filmed in Perth, Australia | July 2025
Dr Di Huang is a Research Associate at the Lions Eye Institute (LEI), working with A/Professor Fred Chen and Dr Sam McLenachan. Her research focuses on developing a robust platform of retinal pigment epithelium cells and retinal organoids derived from patient-specific induced pluripotent stem cells to model inherited retinal diseases, particularly Stargardt disease (STGD1).
STGD1, caused by ABCA4 mutations, leads to progressive photoreceptor degeneration and vision loss. Dr Huang’s research investigates splice-switching antisense oligonucleotides (SS-AONs) as a therapeutic strategy. Unlike traditional gene replacement therapies, SS-AONs transiently modulate pre-mRNA splicing, offering a mutation-specific, reversible approach with potentially enhanced safety and efficacy.
Utilising patient-derived fibroblasts from the Western Australian Retinal Disease Study biobank, her team aims to characterise ABCA4 variants, elucidate disease mechanisms, and assess SS-AONs’ therapeutic potential through advanced molecular and functional analyses. This research seeks to refine genetic diagnoses, facilitate patient stratification for clinical trials, and advance precision medicine approaches for inherited retinal diseases.
Dr Huang completed her PhD at Murdoch University, through a scholarship awarded by the Perron Institute and Murdoch University before joining LEI. She has authored ten publications, seven as first author, and has had two abstracts published in the Association for Research in Vision and Ophthalmology conference proceedings. She has received multiple awards in 3-Minute Thesis competitions, including the Virtual Asia-Pacific competition. Her research is supported by Lions Eye Institute Strategic Funding (2023), Retina Australia (2024), and Australian Vision Research (2025).
Source: Supplied, and supplemented
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Junior Fellowship to develop vaccine for bacteria that cause ear infections
Dr Erin Brazel has a background in molecular and translational microbiology, with a focus on developing new ways of preventing and treating bacterial diseases. Recently Dr Brazel has been awarded a Junior Fellowship by the Passe & Williams Memorial Foundation.
The fellowship enables outstanding individuals to obtain postdoctoral training under the supervision of an experienced clinical or scientific researcher, with the view to establishing a research career in Otolaryngology, Head and Neck Surgery in Australia and/or New Zealand.
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Applying nanotechnology to chronic pain management
Dr Felicity Han is a Research Fellow and Leader in Pain Relief Innovation, at the Australian Institute for Bioengineering and Nanotechnology in the University of Queensland. Dr Han’s research interests sit at the interface of drug delivery and the pain field. Her overarching research goal is to improve the quality of day to day life of patients suffering from chronic pain, by applying nanotechnology to the development of novel highly effective pain-killer products for improving chronic pain management.
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Dr Zarina Greenberg
RESEARCH IN SANFILIPPO
@ SAHMRI
ADELAIDE, SOUTH AUSTRALIA, AUSTRALIA
