Finding cures for children's genetic diseases


For Researchers

Research Areas

Next-generation sequencing and genomics

There are 3 billion base pairs in the human genome, with 45 million of these base pairs found in the coding sequences of genes.  Next-generation DNA sequencing is a powerful strategy allowing interrogation of the coding sequences (exome sequencing) of genes, or sequencing of the entire human genome.  Many of the disease genes leading to blinding eye conditions such as retinal diseases, glaucoma and cataract are not yet known.  The Eye Genetics Group is using high-resolution genomic techniques for novel disease gene identification in patients and families.  A wealth of genetic data is obtained and our targeted bioinformatic approaches have led to identification of several novel disease genes.   

Understanding disease gene functions

We undertake investigation of the function of the novel disease genes we identify using cell-based, zebrafish and mouse model studies.  Cell-based assays include those investigating the function of novel candidate disease genes which affect the polarity of lens cells.  We are also analysing the function of candidate disease genes by examining the loss of their function in the zebrafish eye in a successful strategy we are undertaking in collaboration with researchers from the Brain and Mind Research Institute, University of Sydney.  For more detailed understanding of disease gene function, we have demonstrated the impact of loss and abnormal function using the mouse as a model system.

Novel therapies in genetic eye disease

Our cell-based and animal model studies provide a platform for the exploration of novel therapies in genetic eye conditions including the use of gene therapy for retinal diseases and the role of stem cells in the eye.