1 October, 2019
We are pleased to announce that we have awarded our medical research grants to four recipients for the year ahead.
We are pleased to announce that we have awarded our medical research grants to four recipients for the year ahead. The 2020 recipients are Dr Raymond Wong (Centre for Eye Research Australia, Dr Anai Gonzalez Cordero (Children’s Medical Research Institute), Professor Andrea Vincent (Sir Charles Gairdner Hospital) and Dr Jennifer Thompson (Australian Retinal Disease Register and DNA Bank).
Sensing the Light: Using Cell Reprogramming to Regenerate Photoreceptors
Dr Raymond Wong
Dr Wong’s Project aims to understand the disease mechanism in photoreceptor degeneration, and to develop cell reprogramming technology to regenerate photoreceptors and restore vision in retinitis pigmentosa.
His team possesses a unique combination of expertise in cell reprogramming, CRISPR technology, single-cell transcriptomics and preclinical retinal research (gene delivery to retina, electrophysiology, retinal imaging, and visual assessment in animal models). This places them in an exceptional position to undertake this Project, reveal the potential for using cell reprogramming to restore vision and shift the field into a new and exciting direction.
Single Cell RNA Sequencing to Characterise Cell Diversity and Molecular Signatures of hiPSC-derived Retinal Organoids
Dr Anai Gonzalez Cordero
The aim of Dr Gonzalez Cordero’s project is to enhance the understanding of inherited eye diseases by combining two important technologies, stem cells and single cell RNA sequencing. Dr Gonzalez Cordero and their team will use stem cells generated from patient’s blood to generate mini human retinas called organoids.
They will characterise cells isolated from organoids from two distinct forms of diseases, named Usher2a and Stargardts and compare these to normal organoids and the adult human retina.
The experiments undertaken Gonzalez Cordero’s project will be used to identify the cell populations within the organ cultures to establish if they are indeed good models in which to study disease. They will also gain insights into the causes of cell damage in disease.
The study is the first step before these organoids can be used in larger projects, aimed to enhance our understanding of eye degenerations and develop new treatment strategies.
Complex Phenotyping in X-Linked Retinal Degeneration due to RPGR Mutations
Professor Andrea Vincent
Dr Vincent’s project is based upon the hypothesis that cilia present in cultured nasal cells will show disruption in structure, and aberrant protein expression in RPGR-Rod Cone Retinal Dystrophy (RCD) individuals with lung disease, compared with normal; and that others with RPGR-RCD, and obligate female carriers will show less severe functional and structural changes.
The project is being undertaken with the idea that better understanding the systemic disease associations present in RPGR-associated inherited retinal disease, can optimise health outcomes for those already affected with a significant visual disability, as identification of mild or pre-clinical lung and ear disease will allow early intervention and treatment.
Provision of Genetic Research Reports to Australian Inherited Retinal Disease Registry Participants via their Nominated Ophthalmologist or Clinical Geneticist
Dr Jennifer Thompson
Our grant will allow Dr Thompson and her team to provide genetic research reports for 200 families via nominated clinicians. In addition to providing support for their participants, the data will be published with other established data, increasing knowledge of the causes of IRD in Australia.
We would like to congratulate the successful applicants and to thank all the researchers who took the time to make applications. We wish them all the best of luck in their research.
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