CILIOPATHIES

Cilia are microscopic, finger-like projections that egress from the surface of cells and are involved in sensing the physical environment and chemical signaling. Motile and non-motile cilia are present in almost all cell types and their dysfunction  causes diseases collectively known as ciliopathies. 


The number of reported ciliopathies (currently 35) is increasing, as is the number of established (187) and candidate (241) ciliopathy-associated genes.

Rare Disease