What are ciliopathies?
Ciliopathies are pleiotropic diseases linked to the formation or function of the cilium. Cilium is a short hair-like protrusions of the cells mediating signalling, cell-to-cell communications and motility. In differentiated cells their stem from the centriole, which attaches to the cell membrane and grows a microtubule based axoneme. Mutations in centriolar or ciliary genes causes a disease pattern

Why ciliopathies?
Hundreds of genes are associated with ciliopathies, however their functions are lest well understood. In top of that, several of them are suspected or proven to have a role outside of the cilium. To which extent these ciliary and extra-ciliary roles contribute to the disease, is an intriguing scientific challenge.

Why we use Drosophila in ciliopathy research?
Ciliopathies can impact multiple organ systems, leading to symptoms such as kidney disease, retinal degeneration, brain abnormalities, skeletal defects and diabetes. As most of differentiated human cells have at least a primary cilium, it is hard to distinguish if a given phenotype of a given mutation is caused by the ciliary or extra-ciliary function of a given ciliary gene. However, Drosophila has the advantage that only certain well established cell types (sensory neurons and spermatocytes) have cilia. These help us to distinguish between cilia and non-cilia related defects in this organism.