Human retinal degenerations

Lead Research Organisation: MRC Human Genetics Unit


We will investigate two genes associated with inherited retinal degeneration. The first is the RPGR gene, in which mutations are a common cause of retinitis pigmentosa, one of the major causes of blindness in middle life, affecting 1 in 3,500 of the general population. We will also characterise the C1QTNF5 gene, in which a rare mutation gives rise to a late-onset retinal degeneration with strong similarity to age-related macular degeneration (AMD). AMD accounts for over half of all blind registrations in the UK and is the commonest cause of blindness in the western world.||Finally, we will investigate a new hypothesis suggesting that a major factor influencing rates of cell death in the >100 different neurodegenerative disorders of the brain and retina involves the state of the mitochondrial genome, which is proposed to provide a quality control function within cell lineages.

Technical Summary

We will continue the characterisation of two human retinal degeneration genes (RPGR, C1QTNF5) which we previously identified by positional cloning. Mutations in the RPGR gene account for 10-20% of all retinitis pigmentosa (RP) patients, more than any other single gene. Mutations in C1QTNF5 are rare but give rise to a late-onset retinal degeneration that is a model for age-related macular degeneration, the major cause of blindness in the western world.||We propose to carry out further focused experiments aimed at elucidating RPGR function in centrioles and basal bodies. Secondly, we propose to characterise further the C1QTNF5 gene, particularly in terms of its protein and glycosaminoglycan interactions. Finally, we will investigate a novel hypothesis concerning the role of the mitochondrial genome in influencing rates of retinal and other forms of neurodegeneration.


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Borooah S (2013) Using human induced pluripotent stem cells to treat retinal disease. in Progress in retinal and eye research

Description MVRF funding
Amount £150,000 (GBP)
Organisation Macula Vision Research Foundation (MVRF) 
Sector Charity/Non Profit
Country United States
Start 03/2006 
End 08/2009
Description RP Fighting Blindness
Amount £97,000 (GBP)
Organisation RP Fighting Blindness 
Sector Charity/Non Profit
Country United Kingdom
Start 03/2007 
End 08/2011
Title RPGR gene therapy for retinitis pigmentosa 
Description Discovery of construct used in successful gene therapy rescue of blind RPGR null mice 
IP Reference WO2016014353 
Protection Patent application published
Year Protection Granted 2017
Licensed No
Impact Progressing to human trials using same vector in patients with retinitis pigmentosa due to RPGR mutation
Description Patient Groups 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Primary Audience Participants in your research and patient groups
Results and Impact talks to patient organisation meetings

none known
Year(s) Of Engagement Activity 2006,2008,2009,2010,2011