The vision pigment rhodopsin (green) in the photoreceptor layer of the retina of the eye. Blue marks the cells of the outer nuclear layer.
The Eye Genetics Group, led by Dr Robyn Jamieson, is investigating inherited eye disorders with the aim of improvement in the diagnosis and treatment of these conditions. Genetic eye conditions under study include retinal dystrophies that affect photoreceptor cells at the back of the eye, cataracts where there is clouding of the lens, glaucoma which can be associated with raised pressure in the eye and developmental eye abnormalities including very small or absent eyes. The Eye Genetics group aims to discover the associated genes and the functions of the proteins they encode, through a combination of high-resolution genomic investigations and the analysis of mouse models of these conditions. Novel treatment strategies are also under investigation.
Patients with eye disorders, including retinal dystrophies or glaucoma, have been identified that have clues to the underlying disease genes. These clues include the presence of a chromosomal abnormality in an individual or family, or families where there are several affected people. We are using high-resolution genomic analysis techniques including comparative genomic hybridisation microarrays, SNP arrays and next-generation sequencing, to detect novel disease genes in these patients.
Understanding protein function in eye disease
The disease genes we identify are investigated using mouse models of the disorders. This enables detailed analysis of the affected pathway leading to abnormalities in vision.
Novel therapies in genetic eye disorders
We are exploring novel therapies in genetic eye conditions including the use of gene therapy for retinal dystrophies and the role of stem cells in the eye.