Overview
Inherited retinal dystrophies (IRD) are conditions with different causes and symptoms that lead all to sight loss due to damage to light-sensitive part of the eye (the retina). About 1 in 2500 people has an IRD.
Many of the genes that play a part in inherited retinal dystrophies have been discovered in the past 30 years. This has meant better diagnosis and a better understanding of how the retina is damaged in IRD. And we’re now closer to having treatments for these disorders.
But new technology is changing the way research is done. For example, ‘next-generation sequencing’ means that researchers can scan lots of genes at once, instead of one by one. This makes it faster and cheaper. It also means that we can get much more information from larger groups of patients.
The UK Inherited Retinal Dystrophy Genome Project (or the RP Genome Project for short) brings together the four largest IRD research groups in the UK: the University of Leeds, London’s UCL Institute of Ophthalmology, Manchester Royal Eye Hospital and Oxford University Eye Hospital. It’s being co-ordinated by Prof Black at the University of Manchester. The group will share information, making it easier to:
- Discover new genes involved in inherited retinal dystrophy
- Develop a confidential database of patients with a known genetic cause to make it easier to recruit participants for clinical trials
- Find out how often particular genetic faults happen (with the aim of improving diagnosis)
- Attract more research funding for IRD
This RP Genome Project is particularly important for people with an inherited retinal dystrophy who do not have a specific diagnosis or who can’t yet be given a clear idea of how their condition will develop. Discovering new IRD genes will also make it possible to start developing treatments.
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Publications
- Conte, Ivan, Kristen D. Hadfield, Sara Barbato, Sabrina Carrella, Mariateresa Pizzo, Rajeshwari S. Bhat, Annamaria Carissimo, et al. “MiR-204 Is Responsible for Inherited Retinal Dystrophy Associated with Ocular Coloboma.” Proceedings of the National Academy of Sciences of the United States of America 112, no. 25 (June 23, 2015): E3236–45.
- Ellingford, Jamie M, Panagiotis I Sergouniotis, Rachel Lennon, Sanjeev Bhaskar, Simon G Williams, Kate A Hillman, James O’Sullivan, et al. “Pinpointing Clinical Diagnosis through Whole Exome Sequencing to Direct Patient Care: A Case of Senior-Loken Syndrome.” The Lancet 385, no. 9980 (May 2015): 1916.
- El-Asrag, Mohammed E., Panagiotis I. Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, et al. “Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement.” The American Journal of Human Genetics 96, no. 6 (April 6, 2015): 948–54.
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Research update
In the first 6 months of this collaboration the team completed most of the groundwork they need to get up and running. The next steps are the major ones of getting the data, sharing and analysing it.
And there have already been some important discoveries that wouldn’t have been possible without the project. New genes have been identified that cause inherited retinal dystrophy associated with ocular coloboma, retinal dystrophy with early macular involvement and Senior-Loken syndrome.