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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Investigating new approaches to target plaque inflammation in atherosclerosis
Associate Professor Peter Psaltis is an Academic Interventional Cardiologist who holds Level 2 NHMRC Career Development and National Heart Foundation Future Leader Fellowships. He has Faculty positions within the University of Adelaide, Central Adelaide Local Health Network (CALHN) and South Australian Health and Medical Research Institute (SAHMRI). Within SAHMRI, he is the Co-Theme Leader of the Lifelong Health, Program Leader of Heart and Vascular Health and Co-director of the Vascular Research Centre in the Lifelong Health Theme.
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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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Investigating the benefits of donor human milk for preterm infants
Together, SAHMRI and Lifeblood are leading a consortium to revolutionise the way human milk, and novel products made from human milk, are used as nutritional and medical interventions to improve health outcomes in vulnerable infants, but with potential application for a diverse range of medical indications.
Currently, babies who are born early preterm – before 32 weeks – are given donor milk when their own mother’s milk is not available or in short supply. Whether donor milk is beneficial for babies born just a few weeks early is unclear, as very little research has been undertaken with these babies.
The GIFT Trial will soon commence as an investigation between SAHMRI, the University of Adelaide, the Red Cross Lifeblood Milk Bank conducted at five sites across three states in Australia.
