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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Health and economic burden of interstitial lung diseases
Dr Cox’s main research interests focus on respiratory diseases and primarily on the economic burden and economic evaluation of interventions and treatments for their management. She earned her PhD from the University of Tasmania where her doctoral research examined the health and economic burden of idiopathic pulmonary fibrosis (IPF) in Australia, one component of the NHMRC Centre for Research Excellence for Pulmonary Fibrosis, a national project implemented alongside the Australian IPF Registry and the Lung Foundation Australia. This research provided the first epidemiological profile and first costing estimates of the economic burden of the disease in Australia, providing essential evidence for health service reimbursement policies.
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Oral administration of insulin for Type 1 Diabetes
Huiwen Pang is a 3rd year PhD candidate in the Australian Institute for Bioengineering and Nanotechnology, University of Queensland, focusing on biomedical health research. Prior to commencing his PhD, Huiwen studied animal genetics in his Masters degree at Huazhong Agriculture University in China.
People with diabetes, especially Type 1 diabetes, largely rely on the insulin injections or insulin pumps to control their high blood glucose levels, which is painful and has a high risk of infections.
Huiwen Pang is conducting research on nano-based drug formulations for Type 1 diabetes treatment, with a focus on using nanomaterials to load insulin for oral administration and employing anti-apoptotic and anti-inflammatory approaches to mitigate damage to beta cells.
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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.
