Genomic medicine for unravelling the challenges of pathogenesis and treatment of blindness due to childhood cataract and glaucoma


Novel disease genes and variants are identified that contribute to the blinding eye diseases of childhood cataract and glaucoma.  In this project further novel variants will be detected, and cellular, gene editing, proteomic and animal model approaches will be 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



Blindness due to cataract and glaucoma can be caused by single gene disorders or a combination of genetic and environmental factors. The retinal ganglion (RG) cell death and optic nerve damage that occur in glaucoma lead to irreversible visual field loss. Raised intraocular pressure (IOP) is the major known risk factor. Managing raised IOP in genetic eye disease and preventing blindness due to RG cell death and glaucoma is frequently difficult because many of the factors contributing to raised IOP and RG cell loss are not currently known.  
We have identified several patients and families with childhood cataract and glaucomatous diseases where little is known about the function of the underlying disease genes. Genomic strategies combined with functional genomic approaches will be undertaken as appropriate 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, proteomic studies, and animal modelling of lens and glaucomatous disease. This project aims to understand disease gene and protein functions that lead to cataract and glaucoma, and to 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 Eye Analysis including Slit Lamp Microscopy and Ocular Coherence Tomography; 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.


PhD entry: Hons I classification, lab-based research experience is preferable.

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genomics, functional genomics, Vision, Blindness, Retinal ganglion cells, Glaucoma, lens, Cataracts, Neuroscience, Proteomics, Eye, Genetics, Mouse models, Human mutations, Signalling, Hearing & vision problems, Cell biology, Genes in biology & medicine, Bioinformatics, Stem cells, Genome engineering

Opportunity ID

The opportunity ID for this research opportunity is: 2096

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