Investigating genetic variations that determine an individual’s risk of developing Age Related Macular Degeneration

Summary

Age Related Macular Degeneration (AMD) is a common eye condition usually occurring in people who are age 50 and older. It is a leading cause of vision loss in older adults. It gradually destroys the macula, the part of the eye that provides sharp, central vision needed for seeing objects clearly. In some people, AMD advances so slowly that vision loss does not occur for a long time. In others, the disorder progresses faster and may lead to a loss of vision in one or both eyes.

A number of risk factors for AMD have been identified, including several genetic variations within part of the immune system called the Complement System. The Complement System consists of a group of proteins circulating in the blood. When triggered, these proteins help the body fight off infection from bacteria and viruses. Increased activity within the Complement System can provide greater protection against bacterial infection, but is also associated with an increased risk of developing AMD in old age.

We would like to find out more about the genetic variations that determine an individual’s risk of developing AMD and understand more about the Complement System to see how readily this increased activity can be reduced. We hope that information gained from this study will enable us, in the future, to be able to arrest or reverse the progress of AMD in at risk individuals.

Participation: For this study we recruited 14 volunteers from the Cambridge BioResource to give a 25ml blood sample.

Organisation: This study is organised by Professor Sir Peter Lachmann from the University of Cambridge. 

Publications: Complotype predicts activity of the C3b feedback cycle in-vitro and its down-regulation by Factor