Finding cures for children's genetic diseases


Eye Genetics Research Unit

The Eye Genetics Research Unit, led by Professor Robyn Jamieson, aims to understand the genetic causes contributing to blinding eye diseases to improve diagnosis and treatment of these conditions. Disorders studied include retinal diseases that affect the 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 conditions where there can be small or malformed eyes. Other genetic conditions are also studied where causative disease genes are not yet known. We aim to discover the underlying disease genes and the functions of the proteins they encode. We use next-generation sequencing techniques and genomic investigations to pinpoint disease genes. The functions of the disease genes are investigated using cell, zebrafish and mouse model systems, which provide a passage to development of novel treatment strategies. The Eye Genetics Research Group uses whole genome approaches in human patients to identify underlying disease genes in eye and other developmental diseases. Cell based and animal model studies are undertaken to understand how the disease genes lead to the particular abnormality. We are also investigating new ways to target specific eye cells and correct gene mistakes for development of novel treatments for these conditions.

“Blindness and impaired vision are extremely disabling for many in our community. There are often limited treatment options, and many of the underlying causes are not known. My research aims to use new ways to analyse the human genome to identify genetic causes and understand how they lead to blindness.” - Robyn Jamieson

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