Prof Alex Hewitt, Centre for Eye Research Australia, Melbourne, Victoria

Giant cell arteritis (GCA) is an inflammatory disease causing headaches, joint and facial pain, fever and may cause permanent vision loss. It is the most common form of vasculitis in elderly people, with most patients over the age of 50 and making a timely diagnosis and intervention crucial to prevent vision loss.

“If untreated, GCA can cause catastrophic complications including blindness, strokes, as well as aortic dissection and rupture. GCA represents one of the few true ophthalmic emergencies,” explained Prof Hewitt.

“Even after successful treatment with corticosteroids, GCA relapses in 20-30% of patients. There is a significant need for more effective and safer treatments for GCA.”

In ground-breaking pilot work, Prof Hewitt and his research team have identified a novel locus on chromosome 15 that is associated with GCA. Two implicated genes in this region (milk fat globule-EGF factor 8 MFGE8 and hyaluronan and proteoglycan link protein 3; HAPLN3) will be studied in this project to further elucidate the molecular mechanisms that may be involved.