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Leading retinal research centres in the UK to collaborate to accelerate genetic testing

National sight loss charities RP Fighting Blindness and Fight for Sight are joining forces to drive a revolutionary project that will accelerate understanding of the genetic causes of inherited retinal dystrophies (IRD) in UK patients.

Professor Graeme BlackThe 'RP Genome Project' is being collaboratively funded by the two charities to bring together four leading genetic ophthalmology research centres in the UK; University of Leeds and St James Hospital Leeds, UCL Institute of Ophthalmology and Moorfields Eye Hospital, Manchester Academic Health Science Centre and Manchester Royal Eye Hospital, and University of Oxford and Oxford Eye Hospital. The programme is intended to facilitate greater collaboration between the centres and the sharing of patient data - essential in the development of clinical trials and future access to treatments.

Officially approved in July, the project will see investment in the further development of genetic testing services for people with inherited retinal dystrophies, and streamline the processes involved in searching for the remaining unknown genes that cause sight loss. The proposed programme is also intended to influence the way patient data is collected and stored in the future, and to break down the barriers that prevent sharing of clinical data.

The consortium of centres will be coordinated by Professor Graeme Black, Consultant in Genetics and Ophthalmology at Central Manchester University Hospital NHS Foundation Trust and The University of Manchester. This brings together extensive expertise and experience in molecular genetic research, NHS molecular genetic testing and clinical phenotyping of IRD. The researchers and clinicians are collectively involved in a number of on-going clinical trials of novel therapies for inherited retinal disease and the consortium is intended to improve the synergy between NHS diagnostic and academic research efforts. The consortium will also later enable other such centres to join the programme and include patients for investigation, with a view to establishing a national patient data resource.

Dr Dolores M Conroy, Director of Research at Fight for Sight said, "This consortium is particularly important for people affected by an inherited retinal dystrophy who do not have a specific diagnosis or who cannot yet be given a clear idea of how their condition will develop. It will enable the discovery of novel genes that cause IRD, which in turn lead to new therapies. Fight for Sight welcomes this timely collaboration.  In addition it addresses six of the ten research priorities for IRD identified by the James Lind Alliance Sight Loss and Vision Priority Setting Partnership-a consultation with patients, relatives, carers and eye health professionals."

Professor Graeme Black, who is also the Strategic Director of the Manchester Centre for Genomic Medicine and responsible for coordinating the consortium explained: "These are really exciting times for genetic research, and I am proud to be part of such a project.

"With the recent announcement that Britain is set to lead the world in genetic research through the 100,000 Genomes Project, this launch also is very timely. We are bringing together the UK's finest scientists and clinicians, who will be working more closely than ever before to investigate the causes, and potential treatments, for inherited retinal diseases."

David Head, Chief Executive at RP Fighting Blindness, who has been working on the development of the programme for the last 18 months commented, "It is widely considered frustrating that research teams working on gene hunting projects, or teams working on the development of clinical trials, have difficulty accessing patient data; we understand there are data protection considerations, but most people would encourage and permit the sharing of their data if they knew it was going to contribute so significantly to the search for a treatment. It is also frustrating that funding for genetic testing is difficult to access in some areas of the UK. We strongly believe working across the four centres to develop a consolidated approach will help with all of this."