Uncovering Roles of Ciliopathy Associated Genes

Our lab is interested in ciliopathy, over 30 of different human diseases resulting from functional and/or structural defects in cilia. To date, mutations in over 100 different genes have been identified to cause ciliopathy diseases. When any of these 100 genes, which encode proteins localized to cilia, basal body and/or transition zone, is mutated, the structural and/or functional abnormalities in cilia occur, thus leading to a range of symptoms observed in ciliopathy. Joubert syndrome (JS [MIM 213300]) is a ciliopathy disorder with an occurrence of approximately 1/100 000 live births. Our previous work has revealed that Joubert syndrome associated ARL13b is enriched in the proximal cilia, where ARL13b regulates intraflagellar transport (IFT) and ciliary membrane trafficking. We are currently studying disease associated genes in C. elegans.