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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Visceral pain and the gut-brain axis
Professor Stuart Brierley is Director of the Visceral Pain Research Group, Director of the Hopwood Centre for Neurobiology, and Theme co-Leader of Lifelong Health at the South Australian Health and Medical Research Institute (SAHMRI).
Prof Brierley is an international expert on the ‘gut-brain axis’ and chronic visceral pain mechanisms. Current investigations are on a individual cell type called the enterochromaffin cell, and it helps signal pain and anxiety from the gastrointestinal tract to the brain.
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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).
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Patient reported outcomes in the diagnosis and treatment of lymphoma
Dr. Elizabeth Goodall (BMedSci Hons, MBBS Hons, FRACP, FRCPA) is a PhD student and early career researcher with La Trobe University and the Olivia Newton John Cancer Research Institute (ONJCRI), and Haematologist at Austin Health and Monash Health, Melbourne.
Her specific interest in how patients experience their illness and treatment forms the basis for her research in improving patient outcomes. This research comes at a pivotal time in modern lymphoma management with an ever-increasing number of treatment options available and renewed focus on each patient’s journey.
