Genome-wide expression profiling of keratoconus and non-keratoconus corneas

Summary Keratoconus is a potentially blinding eye disease of the cornea. Typically, it occurs in childhood and various intervention measures are currently used to slow its progression but there is no cure. While its aetiology is due to genes and environment, the involvement of these factors is still poorly understood. In this proposal we will greatly advance our understanding of disease through genetic analysis of this disease.

Project Details

Keratoconus is a potentially blinding eye disease of the cornea. Typically, it occurs in childhood and various intervention measures are currently used to slow its progression but there is no cure. While its aetiology is due to genes and environment, the involvement of these factors is still poorly understood. In this proposal we will greatly advance our understanding of disease through genetic analysis of this disease. The project will involve undertaking RNA sequencing from the 3 different layers (epithelium, stroma and endothelium) of the cornea to assess what changes occur in gene expression from these corneal tissues collected from keratoconus cases compared to corneas from living (non-keratoconus) donors through enucleation as well as corneas collected through an EyeBank. Our preliminary analysis of RNASeq data have indicated that different analysis programs can lead to different outcomes in terms of which genes/pathways are identified and we would like to look further into this issue to determine the factors driving these outcomes. The student will be involved in analysis of RNASeq data and pathway analysis to better understand these findings.

Students with backgrounds in Bioinformatics, Genetics, Computer science and/or optometry and visual science are welcome to apply.