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
-
ROCK-induced early-onset bowel cancer progression
Professor Michael Samuel is a cell biologist whose research interest is in understanding how cancer mechanobiology influences the tumour microenvironment, thereby promoting tumour progression. He is Professor of Matrix Biology at the University of South Australia, Adelaide and heads the Tumour Microenvironment Laboratory at the Centre for Cancer Biology and the Cancer Mechanotherapies Laboratory at the Basil Hetzel Institute for Translational Health Research.
-
Indigenous Australian health and ear disease
Professor Kelvin Kong feels incredibly fortunate to lead a fulfilling life surrounded by his loved ones. With a demonstrated history of service in the health industry, he brings a wealth of expertise across various sectors including clinical research, medical education, surgery, paediatrics, health policy, and Indigenous education. Kelvin started his university, residing at New College in 1992, which brings him fond memories. Graduating from medicine from the University of NSW, Kelvin continued his studies and became a fellow of the Royal Australasian College of Surgeons (RACS) and Australian Society of Otolaryngology, head & neck Society (ASOHNS).
-
Dr Jade Murray
DR JADE MURRAY, POSTDOCTORAL RESEARCH FELLOW
TURNER INSTITUTE FOR BRAIN AND MENTAL HEALTH, MONASH UNIVERSITY
VICTORIA, AUSTRALIA
