As an ophthalmic surgeon, I am aware that blindness is an outcome people most fear given its huge contribution to our quality of life. Inherited disorders of the retina are the most common cause of blindness in the working population of the United Kingdom. The aim of my DPhil thesis is to develop a therapy for a genetic cause of human blindness (caused by abnormalities in the gene, CDHR1) for which there is currently no treatment.
As part of my research, I have re-programmed the genetic code of the adeno-associated virus (an organism that has evolved over millions of years to effectively enter cells and replicate its own DNA) to provide a healthy, synthetic copy of the human CDHR1 to photosensitive cells in the retina – a treatment called “gene therapy”. I am seeking to provide proof-of-principle that gene therapy can arrest retinal degeneration and the onset of blindness in pre-clinical models CDHR1-associated retinal degeneration. It is my hope that this research will be translated into future clinical trials in human patients with the disease who we have identified across the world, including residents of Oxford!
Through generous funding from the Medical Research Council UK, Merton College and the Nuffield Department of Clinical Neurosciences in Oxford, I have been able to disseminate some of the findings of my research at international meetings. I have used these opportunities to form collaborations with more than 50 ophthalmologists around the world who care for patients with visual loss due to CDHR1-associated retinal degeneration. Our aim is to further characterise the human disease to identify when gene therapy could most usefully be delivered.
I am immensely grateful to Merton College and the graduate community for providing a wonderful social and academic environment in which research students like myself can thrive. Merton has granted me valuable mentorship and two grants to support my research. I would whole-heartedly recommend Merton College as a setting for any prospective post-graduate student.