Research Projects

Cilia Development & Disease

Principal investigator: Dominic NORRIS (Harwell - Medical Research Council)
Funding source: MRC
 Value: £5,128,959
 Start: 01-04-2019  /  End: 01-04-2021
Cilia are hair-like extensions from the cell surface. Most will have heard of the specialised motile cilia functioning in the trachea, beating to bring mucus up from the lungs; these cilia stop beating in response to the flu or smoking, leading to coughing. Similar motile cilia function in the brain and the reproductive tract; during development cilia are required to establish a proper left and right hand side. Other cells have a single non-motile cilium. These have been implicated in cell-cell signalling, stress perception, hearing, vision and appetite, leading their description 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 distinct, these disorders result in overlapping defects; together have become known as the ciliopathies and they represent a significant burden of genetic disease.

We are interested in the role of cilia in mammalian disease and development. Using 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 cilia and to develop models of human disease (ciliopathies) with the ultimate goal of identifying and developing therapeutic strategies.