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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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.
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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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Health impacts of donor milk for pre-term babies
Professor Alice Rumbold is Theme Leader of SAHMRI Women and Kids, managing a multidisciplinary research team focussed on improving health outcomes for women, babies and families. She also holds an affiliate position as a Research Leader within the Robinson Research Institute at the University of Adelaide.
An epidemiologist and health services researcher, she is internationally renowned for her leadership of large-scale clinical trials, epidemiological studies and systematic review activities to improve perinatal and reproductive health care. She is passionate about improving health outcomes for women and babies, particularly those experiencing vulnerability. Her current research interests include preterm birth, breastfeeding, human milk banking and infertility
