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The University of Southampton
Medicine

Saving millions in sight and money

University of Southampton researchers have transformed ophthalmic research by discovering novel genes for complex diseases such as AMD and glaucoma. Genetic tests are now available on the NHS and new treatment and disease prevention methods are in regular clinical use. Millions of people worldwide are set to benefit, with the application of our work saving sight as well as saving the NHS a potential £85million each year.

Research Challenge

Age-related macular degeneration (AMD), a blinding disease affecting up to 64% of people over 80 years old, is a complex late onset disease with a varied clinical appearance and phenotype. There are many risk factors including age, smoking and gender, as well as genetic risk associated with specific genes.

Context

 We applied genomic research to cohorts of patients with eye disease which resulted in the discovery of new causal genes for blinding diseases such as AMD.

Our Solution

A fully trained multidisciplinary research team comprising academic staff, students and clinicians collected DNA samples from multiple sites across the UK. Data sharing resulted in the discovery of new novel genes for complex diseases with several of these studies being adopted by the NIHR.

Our engagement with healthcare commissioners created a regional NHS AMD and photodynamic therapy (PDT) laser service to treat a more severe form of AMD.

This led to the discovery that patients with a particular type of genome were less likely to benefit from the usual drug prescribed to treat AMD, and Professor Lotery gained agreement that a less expensive drug, Avastin, could be used in Hampshire.

What was the impact?

The University’s strong links with its city’s Eye Unit ensure that research into the causes and treatments for the most serious cases of previously untreatable blindness can be found.

The introduction of PDT laser therapy sanctioned our publication of the first pharmacogenetic association for age-related macular degeneration and our work has since investigated further associations in AMD trials.

A comparison of drug treatment found that the less expensive drug, Avastin is “no less effective in treating nvAMD” than the NHS-approved drug. If patients needing treatment were given Avastin, the NHS could save an estimated £84.5m.Finland has already adopted the use of Avastin for treatment of AMD.

researchers have transformed ophthalmic research by discovering novel genes for complex diseases
Genetic investigation of AMD

Key Publications

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