Ciliopathy

Ciliopathies are a group of genetically diverse disorders caused by defects in the structure or function of the primary cilium, a specialized organelle found on nearly all eukaryotic cells that helps cells receive and relay signals from their surroundings. Because primary cilia are present in so many tissues, their failure can produce a wide spread of clinical features. Syndromic forms such as Bardet-Biedl syndrome often involve the retina, kidneys, central nervous system and skeleton, and the group also includes polycystic kidney disease, Joubert syndrome and primary ciliary dyskinesia. The genetics are complicated: the same gene can cause different disorders while different mutations produce overlapping features, which makes matching genotype to symptoms difficult. Research now focuses on intraflagellar transport and cilia-associated protein complexes, and therapies such as gene therapy remain at an early stage.