We use human genetics and functional studies in cells and in vivo models to understand the molecular genetic basis of ciliopathies, with particular focus on the motile ciliopathies (primary ciliary dyskinesia) and skeletal ciliopathies (Jeune syndrome, short rib polydactylies). Other genetic diseases under study in the lab include lysosome storage disorders (Batten disease). By understanding the molecular causes of childhood disease our goal is to work towards novel, genetically targeted, therapies.

Human cilia play diverse roles in many processes essential to normal development. Motile cilia dysfunction is associated with chronic respiratory disease and laterality and fertility defects. Dysfunction of primary (sensory) cilia, which play a role in a number of critical signalling pathways including hedgehog and Wnt, is associated with severe developmental conditions for example chondrodyslplasia, retinal degeneration and cystic kidney disease. Mutations in ciliary proteins thus underlie a wide range of ciliopathy syndromes and these can individually be rare, but collectively represent a significant health burden.