Funding outcome

Protruding from most cells are slender structures (cilia) that play diverse and very important roles. These include moving fluid in the brain, the control of cell growth and chemical sensation, to name just three. Until recently, cilia have been relatively under-studied, however their contribution to pediatric disease is being increasingly recognized. We are fortunate in having intriguing data implicating genes with major roles in congenital disease, in ciliary dysfunction. Using animal models we have been able to show that turning off one of these genes alters the length of cilia. Since cilia are similar to a satellite receiver for cells - integrating signals that are essential for normal development - this provides a novel explanation for mechanisms underlying childhood disease. Part of our research will build upon these findings to characterize in more detail the structural and functional changes that occur to cilia, focusing on a pathway that is essential for normal eye formation. This involves study of patient cell lines as well as animal models. This combination of approaches will reveal if a common mechanism contributes to a range of pediatric glaucoma, and whether it also contributes to later onset disease. Potentially, the findings may represent a strating point for development of novel therapeutics for treating patients.