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
-
DNA repair on the Fanconi anaemia pathway
Associate Professor Wayne Crismani is an internationally recognised expert in DNA repair, with a particular focus on Fanconi anaemia (FA)—a cancer-predisposition and bone marrow failure syndrome marked by extreme sensitivity to DNA damage. Based at St Vincent’s Institute in Melbourne, he leads a research program dedicated to understanding the genetic, cellular, and reproductive consequences of FA. He is currently supported by a Victorian Cancer Agency Mid-Career Fellowship and funding from the National Health and Medical Research Council.
-
Next Generation Condom Contraception, Dr Simon Cook
Dr. Simon Cook, Co-Founder and Executive Director of Operations at Eudaemon Technologies, has had a diverse and impactful career journey. Beginning with a background in biotechnology from the University of Wollongong, his focus on bacterial pathogenesis during his PhD led him to study Group A Strep and the streptokinase protein.
Subsequently, Dr. Cook ventured into a unique project funded by the Bill and Melinda Gates Foundation, where he became involved in the development of a next-generation condom to address existing issues such as feel, odour, and taste.
-
Infections and other lung diseases using models of human lung tissue grown from stem cells
Dr Rhiannon Werder is a Team Leader at Murdoch Children’s Research Institute leading a multidisciplinary team, combining expertise in stem cell biology and immunology, to develop new therapies for lung diseases. Her research centres around induced pluripotent stem cells to investigate respiratory diseases, spanning acute respiratory infections to chronic lung diseases. Using stem cells, Dr Werder’s team creates models of human lung tissue. With these models, Dr Werder is investigating how human-specific pathogens infect different regions of the lung, the ensuing immune responses, and how the lung repairs itself after infections, especially in people with preexisting lung diseases.
