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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Dr Meghan McIlwain
DR MEGHAN MCILWAIN, CLINICAL RESEARCH MANAGER
PRESIDENT, THE NEW ZEALAND ASSOCIATION OF CLINICAL RESEARCH,
AUCKLAND, NEW ZEALAND -
Dr Ryan O’Hare Doig
NEIL SACHSE CENTRE FOR SPINAL CORD RESEARCH (SAHMRI)
SOUTH AUSTRALIA
AUSTRALIA -
Interventions for improving outcomes of children who are deaf or hard of hearing
Professor Teresa Ching is a Conjoint Professor at NextSense Institute and Macquarie University, and an Honorary Professor at the University of Queensland in Australia. Her current research focuses on devising culturally sensitive practices in early detection and intervention to maximise children’s outcomes. Working with international colleagues, her current research is also directed towards developing global guidelines and recommendations for hearing screening beyond the newborn period, so that all children can benefit from early detection and intervention. The ultimate goal is to attain equity of care and outcomes for all children with hearing difficulties.
