Searching all of our genes for changes linked to glaucoma

Research details

  • Type of funding: Early Career Investigator Award
  • Grant Holder: Dr Pirro Hysi
  • Institute: King’s College London
  • Region: London
  • Start date: October 2013
  • End Date: December 2015
  • Priority:
  • Eye Category:


Glaucoma is the second most common cause of blindness worldwide. Although some genes have already been linked to glaucoma, they only explain some of the inherited part of the risk of getting it. This is down to the technology available, as well as not having the large numbers of study participants needed to get clear results given the very large number of potential genetic variations involved.

In this study, Dr Hysi has four main aims:

  • To work on an international study that looks at genetic variations across the whole genome in what’s known as a ‘genome wide association study’ or GWAS. This type of study can pick up genetic variations that would be missed by only scanning a few likely genes.
  • To find and study rare variations in genes and learn about which ones change the way the gene works in a way that leads to glaucoma.
  • To work out how genes interact with each other to produce the changes seen in glaucoma.
  • To develop new and improved ways to study changes to DNA structure in complex eye conditions.

Results from the study should takes us closer to personalised medicine based on the particular genetic variations individual patients have. At the moment the only treatment for glaucoma that works is lowering fluid pressure in the eye, but this doesn’t work for everyone, so we need new targets for treatment.