Cilia, Development and Disease
Group Leader : Dominic Norris
Cilia are microtubule based extensions of the centriole that are present in almost every cells of the body. Specialised motile cilia function in the trachea, ependyma of the brain and the reproductive tract; during development cilia are also required for establishing left-right patterning. In contrast, most cells have a single non-motile primary cilium. Primary cilia have been implicated in cell-cell signalling (particularly the hedgehog pathway), planar cell polarity, stress perception, hearing, vision and obesity leading some to describe them as the cellular antenna.
Defective cilia are known to result in a broad range of diseases including Primary Ciliary Dyskinesia (PCD), Polycystic Kidney Disease (PKD), Bardet Biedl Syndrome (BBS), Meckel Syndrome (MKS) and Orofaciodigital Syndrome (OFD). While individual and distinct, these disorders result in a range of overlapping defects and together have become known as the ciliopathies.
We are interested in the role of cilia in mammalian disease and development. Using mouse genetics, cell biological and biochemical approaches we are studying ciliogenesis, left-right patterning and cilia related disease. The aim of this programme is to understand the normal function of cilia, the effects of defective cilial function and to develop mouse models of human ciliopathies with the ultimate goal of identifying and developing therapeutic strategies.