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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Inner ear organoids for the study of human hearing and balance
Dr Jackie Ogier is an auditory neuroscientist, with a research focus on the molecular biology of hair cells, the specialised sensory receptors in the ear that detect sound and balance. She is a postdoctoral research fellow in the laboratory of A/Prof Bryony Nayagam, supported by a prestigious Passe and Williams foundation fellowship.
Dr Ogier’s experience broadly spans the genetics of hearing loss, disease modelling, micro dissection, primary cell culture, stem cell culture, organoids, and proteomics. Overall, she aims to generate knowledge of hearing and vestibular sensory biology.
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Relationship between language-literacy skills and mental health
In an innovative move towards enhancing mental health services, Associate Professor Amanda Neil and team, supported by the RHH Research Foundation, are undertaking a crucial study on language-literacy skills of patients within mental health care settings. This year-long project, which commenced in April 2024, seeks to unravel to what extent, where and for whom language-literacy skills are being considered in Tasmanian mental health service provision.
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CASE STUDY Large scale genetic study finds link between Irritable Bowel Syndrome & cardiovascular system
Research published April 2024 in the journal Cellular and Molecular Gastroenterology and Hepatology sheds light on disease mechanisms common to irritable bowel syndrome (IBS) and cardiovascular diseases (CVD).
