ProfessorRobyn Jamieson

Project Opportunities

Title: Pathways to therapies in blinding genetic retinal eye diseases

Summary of opportunity:

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.

Opportunity 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. 

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.