Disease gene independent generic suppression-based therapies for retinal disorders

Multiple mutations in over 200 genes can cause retinal degeneration, a group of diseases that result in the death of light detecting photoreceptor cells in the retina. Mutations in more than 30 genes can also cause optic neuropathies, a group of disorders that affect retinal ganglion cells, causing the optic nerve to be less capable of delivering visual signals to the brain. Both sets of disorders result in loss of vision and therefore result in significant deleterious effects with respect to patient quality of life and costs to the health care system. Given the multiplicity of mutations giving rise to retinal disease, the rarity of some disease genes, and the enormous costs associated with running clinical trials, it is evident that 'generic' therapies for these disorders targeted at modulating common disease mechanisms observed in many of these disorders would be relevant to a greater number of patients and therefore would represent a breakthrough in patient care.
Both retinal degeneration and optic neuropathy show raised levels of oxidative stress prior to death of the affected cells. Oxidative stress results in raised levels of free radicals and damage within the cell as malfunctions due to the presence of an inherited mutation, for example rendering the cell unable to cope with the daily demands of metabolism. The current study is concerned with exploring innovative therapies focused on reducing the levels of oxidative stress within photoreceptor and/or retinal ganglion cells, thereby resulting in longer cell survival times and significant delays in onset of vision loss.

Award Date
23 October 2015
Award Value
Principal Investigator
Professor G Jane Farrar
Host Institution
Trinity College Dublin
Health Research Awards