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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Muscle Cell Communication and Repair
Dr. William Roman is a Group Leader at the Australian Regenerative Medicine Institute (ARMI) at Monash University. He obtained his PhD from Paris Descartes University and Freie University of Berlin, focusing on nuclear positioning during skeletal muscle development. Dr. Roman’s research journey has taken him across the globe, including postdoctoral work in Barcelona, tissue engineering in Lisbon, and a brief stint at Stanford University.
At ARMI, Dr. Roman leads innovative research on intercellular communication within muscle organs. His work involves growing human muscles on chips to understand how skeletal muscle cells interact with neurons and tendons. This research aims to develop better models for studying muscle diseases, drug screening, and even applications in cellular agriculture and biorobotics.
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Genetic disease research imitating function and architecture of organs
Professor Wolvetang was among the first to bring the first human embryonic stem cells to Queensland, with his Wolvetang Group at the AIBN now renowned for its work with organoids: growing them, studying them, and using them to try and understand diseases and human development.
Using cutting edge technology, Professor Wolvetang designs and grows organoids both for their own work and for labs across the country, coaxing pluripotent stem cells or tissue samples into 3D structures that mimic the function and architecture of real brains, livers, kidneys, spinal cords, and intestines.
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Novel therapy for pancreatic cancers, targeting molecular foundation
Dr Michael Lee is an experienced medical oncologist, sub-specialising in gastrointestinal cancers and neuroendocrine tumours at the Peter MacCallum Cancer Centre.
He plays a key role in molecular tumour boards at VCCC Alliance (Victorian Comprehensive Cancer Centre) and MPCCC (Monash Partners Comprehensive Cancer Consortium), ensuring the accurate and effective use of precision medicine in cancer care across the state.
