Researchers at Flinders are on a quest to improve treatments and learn more about the genetic risks of childhood glaucoma – a rare disease which can result in significant blindness.

Using a Flinders Foundation Health Seed Grant, Dr Emmanuelle Souzeau will look at the outcomes associated with different childhood glaucoma associated genes to help determine the best treatment strategies and clinical management for patients.

With early diagnosis and treatment crucial in preventing irreversible blindness, Dr Souzeau will also develop a molecular essay to determine if certain genetic variants are responsible for the disease in some families. This work will provide additional evidence for testing laboratories, so better information about diagnosis and risk recurrence in families can be provided.

This research is made possible thanks to a generous supporter and generous donations from the community.

Project title: Improving management of childhood glaucoma using precision medicine and translational approaches

Lead researcher: Dr Emmanuelle Souzeau