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Ciara O'Driscoll
Ciara O'Driscoll

My work, under the supervision of Professor Shomi Bhattacharya has been to identify and characterise a gene responsible for autosomal recessive Retinitis Pigmentosa (arRP). Recessive RP accounts for up to 50% of all RP cases worldwide. Up until recently 25 genes have been identified for arRP, collectively these genes account for only 1-5% of all arRP cases. Together with our collaborators, led by Dr. Guillermo Antinolo in Seville, Spain, we have identified the gene for RP25 which has been successfully published in Nature Genetics last month. Using a positional cloning approach, along with comparative genomics we identified the RP25 gene or EYS.

The gene spans 2 Mb in size, and is thus far the largest gene to be identified in the human eye. We are now determining the function and role of EYS in the human retina. Using functional analysis, including immunohistochemistry, immunocytochemistry, as well as western blots, we are unravelling the expression and co-expression of EYS in the retina.

Future "dreams or visions" in vision research

My personal dream in vision research is to continue discovering the function of this novel gene. It would be hoped that this gene could be the first major gene reported for autosomal recessive RP. It is also anticipated that this gene could be a prime candidate gene for selection for future clinical trials in blindness. Overall in the vision field, I would like to witness the successful completion of several clinical trials and the development of further genetic therapies for blindness.

Ciara O'Driscoll

University College London
Institute of Ophthalmology

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