RCOphth would like to congratulate Amy Gerrish and her co-authors from Birmingham Women’s and Children’s NHS Foundation Trust for winning the Ulverscroft David Owen prize for best published paper in paediatric ophthalmology research over the last three years. The judges were particularly impressed with the paper ‘Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour.’
The paper, which focuses on the genetic testing of retinoblastoma (published in British Journal of Ophthalmology in 2019), demonstrates for the first time that aqueous humour from the eye of retinoblastoma patients is a source of tumour DNA, which can be used for the genetic diagnosis of the disease.
This paper is particularly important, as retinoblastoma is the most common eye cancer in childhood and is almost always caused by mutations in the RB1 gene. These mutations can either be inherited or develop just within a single cell of the eye (known as sporadic). Determining the nature of an individual’s mutation is crucial for patient care as the type of RB1 mutation can help predict whether retinoblastoma is likely to develop in the second eye and whether a child is at an increased risk of other types of cancer. The nature of the RB1 mutation can also help predict whether a patient’s siblings are likely to develop retinoblastoma.
By analysing the DNA present in the eye fluid of affected children, Amy Gerrish and the research team comprising both ophthalmologists and geneticists , have developed a screening test capable of detecting sporadic mutations in the RB1 gene which are only found in the tumour. Currently this is only possible if an eye is removed, the need for which is in decline due to the increasing treatment success of chemotherapy and aggressive local therapy.
This novel test has the potential to have a significant impact on the immediate and future treatment of retinoblastoma patients and their families and as such was recently rated as a F1000 exceptional publication.
Speaking on winning the prize, Amy Gerrish said: “We would like to thank the Ulverscroft Foundation and the Royal College of Ophthalmologists for awarding our publication this prestigious prize. We hope our study will help transform genetic testing in retinoblastoma through the analysis of tumour DNA in eye fluid, not only during initial diagnosis of the disease but also by providing information on patient prognosis.
“We would also like to thank the Wellcome Trust for initially funding this work as well as Fight for Sight and the Childhood Eye Cancer Trust for recently awarding us a grant to continue this work through a collaboration with the London Retinoblastoma service. The research itself has only been possible due to the hard work of individuals both within the Retinoblastoma team and the Regional Genetic Unit at the Birmingham Women’s and Children’s hospitals particularly Dr Trevor Cole, Dr Stephanie Allen and Mr Manoj Parulekar.
“We dedicate this prize to the patients with retinoblastoma and their families who have participated in this study not for their own benefit but for the future benefit of others.”
Professor Jugnoo Rahi commented: “As Chair of the Academic Committee of RCOphth and Director of the Ulverscroft Vision Research Group, I am delighted that this second Ulverscroft David Owen Prize has been awarded by the RCOphth Paediatric Subcommittee to translational research undertaken by multidisciplinary team and drawing on patients served by a dedicated NHS specialist service. A great example of team science that starts and ends with the patient.”