Dr Fred Chen, Centre for Ophthalmology and Visual Science (Lions Eye Institute), The University of Western Australia

Retinitis pigmentosa (RP) is an inherited eye condition that causes the light-sensitive cells at the back of the eye to slowly degenerate. RP affects 1 in 3,000 people worldwide and there are 8,000 patients in Australia. Although more than 100 genes may cause RP, a gene called PRPF31 is one of the most commonly implicated.

Lead researcher, Dr Fred Chen has studied DNA from families with this gene and found that not all family members (up to 30%) who carry the gene develop RP. This intriguing observation led to the discovery that another gene called CNOT3 is a negative regulator of the PRPF31 gene and is an excellent candidate for new therapeutic strategies. By interfering with CNOT3 function using specially developed RNA fragments, the PRPF31 gene can still function adequately.

“The aim of this study is to induce partial knock-down of CNOT3…and thereby increase PRPF31 expression from the normal allele in retinal cells from patients,” said Dr Chen.

In the laboratory, specially cultured retinal cells from RP patients will then be studied to determine whether gene and cell function improve.

“No treatments are currently available for these diseases,” explains Dr Chen.
“Successful completion of this project will generate essential pilot data to support in vitro and in vivo pre-clinical animal testing of an Australian made lead drug candidate.”