Our exciting research plans for 2013January 9, 2013
Our exciting research plans for 2013 content
This year promises to be an exciting year for Fighting Blindness research. Thirty years ago, nothing was known about the genetics of degenerative blinding conditions. This year, thanks to continued generous support from you, our members and supporters, we are funding two Irish-based, cutting-edge research projects that are at advanced stages.
With your help, we have entered an exciting new era in retinal research, where laboratory discoveries are finally entering clinical trials and cures and treatments are realistic goals. We will strive to ensure that the needs of Irish patients will be forefront during this period.
Professor Tom Cotter, University College Cork
“Bringing the Neuroprotective compound Norgestrel closer to the clinic.”
The first project is a direct investment by Fighting Blindness to help progress a potential new pharmacological treatment for Retinitis Pigmentosa (RP) towards the clinic. Professor Tom Cotter of University College Cork is a world renowned scientist working in the area of apoptosis, which is the mechanism by which photoreceptors die and is a central feature of RP. Back in 1995, Tom was better known as a cancer researcher as he led the Irish team that made the landmark discovery about how tumour cells can “escape” apoptosis and therefore survive during cancer progression. With his respected international reputation, Fighting Blindness approached Tom to investigate the basis of cell death in RP as at that time very little was known about the mechanism of photoreceptor degeneration. In the intervening period since those early investigative days, Tom’s team have worked tirelessly to identify the molecular basis of the complex process of cell death in RP and they have published a number of internationally reviewed scientific papers where they have explored the numerous gene pathways that are disturbed.
Recently, they have turned their attention to the next step, which is developing therapeutics that may be useful in the clinic to target these gene pathways in order to enable survival of these cells. One potential therapeutic that Tom’s group are especially interested in is Norgestrel, a safe and commonly used drug which is the active ingredient in the hormonal contraceptive known as the “minipill.” Tom’s laboratory have discovered that injecting two separate mouse models of RP with Norgestrel lends a protective effect to rod and cone cells and leads to improvements in cell survival. With this renewed investment from Fighting Blindness over the coming three years, Tom hopes to determine the optimum dosage of the drug over a longer time frame, ultimately preparing for a clinical trial that will determine how successfully the drug postpones retinal cell death and maintains vision.
Professor Jane Farrar, Trinity College, Dublin
“Exploration of AAV-delivered gene therapies for LHON”
Bringing lab based research to the patient is also a central aim of Professor Jane Farrar’s laboratory in Trinity College Dublin. Jane has been has instrumental to the long road of discovery in retinal research in Ireland. Prior to 1989, very little was known about the genetics of RP. Under the immense guidance of Professor Pete Humphries, Jane along with Consultant Ophthalmologist Mr. Paul Kenna looked at the DNA of Irish families and they were the first in world to identify many of the genes causative for RP. Later, they established Genable Technologies, to effectively translate this knowledge into developing viral based gene therapies for autosomal dominant forms of RP. First-in-human trials for their initial experimental gene medicine are scheduled to take place soon.
Another retinal degenerative with an unmet clinical need that Jane is interested in is Lebers Hereditary Optic Neuropathy (LHON). In LHON, a mutation in the mitochondrial DNA leads to a loss of energy transfer to the optic nerve and a degeneration of the cells, resulting in loss of vision. It predominantly affects young men, and leads to a rapid loss of vision for which there is currently no cure. Jane’s team have previously successfully employed viral technology to deliver a gene that provides energy back to the eye cells, preventing those cells from dying and they have demonstrated the effectiveness of this treatment in a mouse model of LHON.
In conjunction with this, another important aspect of this project will involve identifying and profiling the LHON population in Ireland by sequencing the mitochondrial DNA of each affected individual. This information will be invaluable and necessary for the future clinical applications of a therapy
Professor Farrar’s project is jointly funded by Fighting Blindness and the Health Research board under the MRCG/HRB scheme and Professor Cotter’s project is a direct investment by Fighting Blindness. This represents a total of €450,000 invested in retinal research over the next 3 years. We emphasise again that this progress has been a culmination of many years of support from our members and we will of course update you with news from these projects over the coming period.