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Pathways to therapies in blinding genetic retinal eye diseases


In this project, novel disease genes and variants are identified that cause blinding retinal eye diseases. Cellular, gene editing, proteomic and animal model approaches are taken to identify disease gene and protein functions and progress to therapeutic strategies.


Associate Professor Robyn Jamieson.

Research location

Westmead - Childrens Medical Research Institute

Program type



Blinding retinal eye diseases with strong genetic contributing factors affect approximately 1 in 3,000 individuals, or more than two million people worldwide.  Devastatingly, for most patients there are only supportive measures, and their current fate is an inexorable progression to blindness.

In this project,  technological breakthroughs in genome sequencing, genome engineering, and stem cell technologies are used as appropriate for interrogation of disease pathophysiology, and development of cell and animal models aimed at functional understanding and development of therapies for the blindness. 

We have identified several patients and families with retinal conditions where little is known about the function of the  underlying disease genes. Genomic strategies combined with functional genomic approaches will be undertaken for disease gene interrogation and elucidation of disease mechanisms. The approaches used in this project include cellular assays to investigate gain and loss of function of candidate disease genes, CRISPR/Cas9 technologies for gene editing, induced pluripotent stem cell assays for retinal disease modelling, proteomic studies, and animal modelling of retinal disease. This project aims to understand disease gene and protein functions and use the model systems developed to test the most appropriate therapeutic strategies.

A number of  state-of-the-art facilities at CMRI  assist with this research including those dedicated to: Vector and Genome Engineering; Bioinformatics; Advanced Image Analysis; Murine Retinal Analysis and Electrophysiology; and Biomedical Proteomics.

Additional information

Children's Medical Research Institute (CMRI) is an award-winning state-of-the-art medical research facility, with over 100 full-time scientists dedicated to researching the genes and proteins important for health and human development. The CMRI is supported in part by its key fundraiser Jeans for Genes®. Our scientists are internationally recognised research leaders and foster excellence in postgraduate training. CMRI graduates are highly sought after nationally and internationally.

CMRI is located at Westmead, a major hub for research and medicine in NSW, and is affiliated with the University of Sydney. Easy to access by public transport.

We are looking for top quality students who can prove a dedicated interest and enthusiasm for scientific research.

Candidates may apply for a CMRI PhD Research Award, which exceeds the Australian Postgraduate Awards and NHMRC scholarships in value. Visit the CMRI website for more details.

Functional genomic techniques are used including cell-based assays, expression studies, genome sequence analysis, applications of genome engineering, proteomic and mouse model studies.  A number of  state-of-the-art facilities at CMRI  assist with this research including those dedicated to: Vector and Genome Engineering; Bioinformatics; Advanced Image Analysis; Murine Eye Electrophysiology, Fundoscopy, and Ocular Coherence Tomography; and Biomedical Proteomics.

Honours entry: GPA on track for Hons I / IIA classification             
PhD entry: Hons I classification, lab-based research experience is preferable.

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Opportunity ID

The opportunity ID for this research opportunity is 2095