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
-
CASE STUDY increasing survival, free of bronchopulmonary dysplasia (BPD) in extremely preterm infants
The aim of the PLUSS trial was to find out if installation of budesonide (a steroid) with surfactant to the lungs of extremely preterm babies helps to prevent lung disease, or Bronchopulmonary dysplasia (BPD).
-
Public health and research into Ear, Nose and Throat conditions
Associate Professor Paul Paddle is an Ear, Nose and Throat (ENT) surgeon, head and neck surgeon with fellowship training in Laryngology – Voice, airway and Swallowing disorders. Working at Monash Health and Monash Children’s hospital, Paul has extensive experience managing a wide range of paediatric ENT conditions, from neonates to adolescents. He is also an active researcher in paediatric obstructive sleep apnoea and sleep disorders.
-
Treatment pathways for chronic plantar heel pain
Jason Rogers is a Tasmanian physiotherapist clinician-researcher with a longstanding interest in improving musculoskeletal foot and ankle conditions. He completed his PhD at the Menzies Institute for Medical Research at the University of Tasmania in 2022 investigating the clinical and imaging factors associated with a common foot complaint known as chronic plantar heel pain.
