Pathways to therapies in blinding genetic retinal eye diseases

Summary

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. Novel treatment strategies are also investigated.

Supervisor(s)

Associate Professor Robyn Jamieson

Research Location

Westmead - Childrens Medical Research Institute

Program Type

PHD

Synopsis

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. Novel gene therapy approaches are also under investigation using new AAV technologies.
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

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

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Keywords

genomics, functional genomics, Vision, Blindness, retina, 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: 2286

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