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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Enhancing occupational therapy service provision with military veterans
Prof McKinstry was instrumental in the development of the occupational therapy course at the La Trobe University’s Bendigo campus and also the establishment of the Rural Health School.
Prof McKinstry’s research focus is on health workforce, particularly developing a sustainable rural health workforce through recruitment of rural students for health courses, innovative and flexible delivery of health courses, telehealth and emerging areas of practice for occupational therapists.
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CASE STUDY High blood pressure and shorter sleep may worsen brain decline
People with high blood pressure who also lack sleep may be at increased risk of reduced cognitive performance and greater brain injury, Monash University research has found.
Published in the Journal of the American Heart Association, researchers assessed whether the combined effect of hypertension and short sleep duration had a negative impact on brain health.
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Dr Lisa Melton
RESEARCH IN BRAIN COMPUTER INTERFACE
@ SYNCHRON
MELBOURNE, VICTORIA, AUSTRALIA
