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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Mental wellbeing in rural and regional communities dealing with environmental challenges
Associate Professor Suzie Cosh is a psychologist and clinical researcher. Her work focuses on the intersection of climate change and mental health and she currently leads a body of work that focuses on supporting small rural communities to recover from and prepare for extreme weather events such as bushfires, floods and droughts.
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CASE STUDY Next Generation Condom Contraception
Eudaemon Technologies, an early-stage medtech company with a focus on sexual reproductive health, is developing a hydrogel condom to address the need for a better feeling, next generation condom, with the potential to improve user experience and address issues with traditional latex condoms.
“Over 1 million STI’s being diagnosed every day and up to 120 million unplanned pregnancies every year result in a $60 billion health burden across the globe”, says Co-Founder and Executive Director of Operations, Dr Simon Cook.
Formed in 2018, the company focuses on developing tough hydrogels as an alternative to address issues with odour, colour, and taste commonly associated with latex condoms. This technology can be loaded with small molecule drugs for flavours or anti-STI compounds, and was developed in response to a grant from the Bill and Melinda Gates Foundation to address unplanned pregnancies and STIs.
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Newborn screening for congenital hypothyroidism
Assoc Prof Jack is passionate about the health and wellbeing of children and adolescents, with diverse research areas including the impacts of family friendly workplace initiatives, screening and management of thyroid disorders in infants and children. She supports her First Nations colleagues on Indigenous-led research projects funded by the Medical Research Future Fund, aiming to improve the social and emotional wellbeing of First Nations Children. Through her clinical and academic roles, Assoc Prof Jack hopes to make a positive difference to the health and well-being of children and their families.
