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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Supportive care for people living with or beyond cancer treatment
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Behavioural science in cancer screening, control and communication
Dr Dodd has an established international reputation as a behavioural scientist in cancer control and communication. Since completing her PhD in 2016, Dr Dodd has been awarded a three-year University of Sydney Postdoctoral Research Fellowship (2018-2021) and a three-year Research Fellowship at The Daffodil Centre (current). Dr Dodd is the co-chair of the ‘Strengthening and optimising approaches to cancer prevention, screening, and early detection’ hub at The Daffodil Centre (with more than 130 staff and students).
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Environmental exposure to function of lung epithelial stem cell biology
Dr Clare Weeden has recently commenced as a Laboratory Head at WEHI in 2025, supported by the CSL Centenary Fellowship.
Dr Weeden specialises in lung epithelial cell biology in the context of homeostasis, inflammation, and lung cancer, particularly in people who don’t smoke. Her work endeavours to understand how past environmental exposures shape the responses of lung cells and the molecular mechanisms underlying this cellular recall, with the aim to develop novel early detection strategies for lung disease.
