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 NK cell-based immunotherapies for hard-to-treat cancers
Associate Professor Fernando Guimaraes is an internationally recognised leader in cancer immunotherapy and natural killer (NK) cell biology. Based at The University of Queensland, he leads innovative research focused on developing next-generation NK cell-based immunotherapies for hard-to-treat cancers, including sarcomas and neuroblastoma.
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Unnecessary tests and treatments in low value critical care
Dr Gerben Keijzers is a Senior Staff Specialist Emergency Physician at the Gold Coast University Hospital Emergency Department. His research focus includes low-value care, which is in the area of unnecessary tests and treatments with minimal benefits. Dr Keijzers has contributed to over 100 publications and more than 20 grant applications. Through his involvement in multi-site collaborative research projects, he encourages critical thinking and curiosity among clinical staff, striving to enhance both patient care and the efficiency of healthcare resources.
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CASE STUDY Next Generation Condom Contraception
Eudaemon Technologies, an early-stage medtech company with a focus on sexual reproductive health, is developing a hydrogel condom to address the need for a better feeling, next generation condom, with the potential to improve user experience and address issues with traditional latex condoms.
“Over 1 million STI’s being diagnosed every day and up to 120 million unplanned pregnancies every year result in a $60 billion health burden across the globe”, says Co-Founder and Executive Director of Operations, Dr Simon Cook.
Formed in 2018, the company focuses on developing tough hydrogels as an alternative to address issues with odour, colour, and taste commonly associated with latex condoms. This technology can be loaded with small molecule drugs for flavours or anti-STI compounds, and was developed in response to a grant from the Bill and Melinda Gates Foundation to address unplanned pregnancies and STIs.
