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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Metabolic phenotyping, lipidomics & bioinformatics in dementia
Dr Luke Whiley is a dementia researcher whose work focuses on understanding how the body’s metabolism, particularly the biology of fats known as lipids, influences our health throughout ageing.
His research explores how the body responds to illness, lifestyle, and environmental stress at a chemical level, and how these responses shape longterm disease risk. Using advanced blood-based measurement technologies, Dr Whiley studies thousands of small molecules at once to build a snapshot of a person’s metabolic health. By combining these measurements with data science approaches, his work identifies biological pathways that become disrupted in disease, providing insight into why some people are more vulnerable to conditions such as dementia.
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Clinical Research in Emergency Medicine
Professor Daniel Fatovich is a senior emergency physician and clinical researcher at Royal Perth Hospital Emergency Department (ED), with over 30 years’ experience in the design and conduct of clinical research in Emergency Medicine. He is also Head of the Centre for Clinical Research in Emergency Medicine (CCREM) within the Harry Perkins Institute of Medical Research.
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Genetics of the choroid and impact on eye health
Professor Daniel Fatovich is a senior emergency physician and clinical researcher at Royal Perth Hospital Emergency Department (ED), with over 30 years’ experience in the design and conduct of clinical research in Emergency Medicine. He is also Head of the Centre for Clinical Research in Emergency Medicine (CCREM) within the Harry Perkins Institute of Medical Research.
