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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Next Generation Condom Contraception, Dr Simon Cook
Dr. Simon Cook, Co-Founder and Executive Director of Operations at Eudaemon Technologies, has had a diverse and impactful career journey. Beginning with a background in biotechnology from the University of Wollongong, his focus on bacterial pathogenesis during his PhD led him to study Group A Strep and the streptokinase protein.
Subsequently, Dr. Cook ventured into a unique project funded by the Bill and Melinda Gates Foundation, where he became involved in the development of a next-generation condom to address existing issues such as feel, odour, and taste.
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Life-changing donor milk for preterm babies
Dr Laura Klein is National Milk Research Leader at Australian Red Cross Lifeblood. Australian Red Cross Lifeblood is funded by Australian governments to provide life-giving blood, plasma, and transplantation and biological products.
Dr Klein works with clinicians and researchers across Australia to understand how donated breast milk can be used to improve outcomes for vulnerable babies. She’s passionate about generating evidence to improve the products and services that milk banks provide to donors and the families who receive donated breast milk.
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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.
