A grant funded by the Angior Family Foundation has been awarded to ARMI to study Leber Congenital Amaurosis (LCA), a group of inherited retinal diseases that are the most common cause of blindness in newborn children. The project will be led by Senior Research Fellow Dr Joachim Berger from the Currie Group.
“I would like to thank the Angior Family Foundation for their generosity,” said Joachim. He added, “There is no cure of LCA. Current treatments are symptomatic only. Thus, advancing our understanding of this condition is key to the development of a potential cure.”
LCA accounts for approximately 5% of all inherited retinal disorders. In patients, symptoms can range from sensitivity to light to almost complete blindness. The retina is a thin layer of tissue that consists of millions of tiny nerve cells that can detect light when it enters the eye. These nerve cells then convert the light rays into electrical impulses that are sent to the brain.
Joachim explains, “There are two proteins, actin and tubulin, that are essential in normal retina development. In general, actin forms the cytoskeleton that gives cells their shape, and tubulin stabilises the axons of nerve cells. There’s another protein complex called TRiC that processes actin and tubulin to make them functional. If the TRiC complex is disturbed, actin and tubulin functionality is lost, which causes severe LCA.”
This research project aims to delineate a unique gene mutation within TriC that only prevents actin processing while tubulin remains unaffected. Using our unique zebrafish mutant enables us to distinguish the roles of actin and tubulin in the pathology of LCA.
“This work will lead to novel insights into the molecular mechanisms of LCA and may uncover new avenues to treat the condition,” said Joachim. “It’s exciting to be at the forefront of scientific discovery, to work towards finding a potential way to cure a devastating condition that affects thousands of people around the world, and to be supported by people and organisations that believe in my research.”
Thank you to the Angior Family Foundation for supporting ARMI research.