Research led by QIMR Berghofer and Harvard Medical School is increasing our understanding of the genetics of glaucoma but researchers need more volunteers to help crack the genetic code of the world’s leading cause of irreversible blindness.

Professor Stuart MacGregor, Head of QIMR Berghofer’s Statistical Genetics group is co-leading international efforts to better understand glaucoma.

‘Glaucoma is one of the most strongly genetic human diseases, which is why we are looking at the genetic architecture of the disease to find clues on how to prevent and treat it,’ Professor MacGregor said.

To date, the large international study has uncovered 127 genes known to increase a person’s glaucoma risk. In their most recently published findings, a genetics based approach has shed light on new biological processes, such as immune function, associated with glaucoma.

QIMR Berghofer researchers examined 34,000 people across 5 continents and compared it to genetic information from almost 350,000 people without glaucoma.

The research showed most of the 127 genes were shared across different ethnic ancestry groups, suggesting genetic tests could workwell across a wide range of ancestries to identify people at risk of glaucoma.

Professor MacGregor said researchers are hoping to build on the study to identify even more genes associated with glaucoma and they are calling on eligible Australians to volunteer in the QIMR Berghofer Genetics of Glaucoma study.

Australians with either a personal or a family history of glaucoma can sign up for the study. Participants provide a saliva sample by mail and complete a survey online.

‘We’re very grateful to the 2,500 Australians who have already volunteered and contributed to our understanding of the genetics of the disease,’ Professor MacGregor said.

‘We’re hopeful that understanding the biological processes of glaucoma and knowing which genes control them could help scientists develop new drugs in the future.’