Cep290 genetic mutations are found in a number of human ciliopathies including Joubert syndrome, characterised by brain abnormalities and in some instance’s polycystic kidneys, as well as Meckel syndrome which is characterised by cystic dysplastic kidneys, brain malformations, hepatic fibrosis and proliferation of the bile ducts. The gene discussed is CEP290; the disease is Hepatic fibrosis.