The RP Genome Project

Research details

  • Type of funding: Fight for Sight Partnership Fund
  • Grant Holder: RP Fighting Blindness
  • Institute: University of Manchester; Leeds University; UCL Institute of Ophthalmology; University of Oxford.
  • Region: All
  • Start date: September 2014
  • End Date: August 2018
  • Priority: Causes
  • Eye Category: Inherited retinal

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.