The Role of Notch-RFX Signaling in Ciliogenesis

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Every organ in the body has unique functions which facilitates the body‘s ability to react to environmental stimuli. An organ is made up of cells with different characteristics which allow that organ to carry out its function. While all cells are initially derived from a single cell type, a programme of genes within a given cell can tell that cell what to become. Chemicals secreted by signal-sending cells can activate a programme of genes in neighbouring cells which receive the signal. As a result, proteins are made within the cell which interact with each other and carry out the special functions of that cell. Sensing changes in the environment is a unique cellular function that is undertaken by structures called cilia which project from the cell surface. Many diseases can result from processes which interfere with the synthesis and function of cilia. We, in the Beales laboratory aim to identify the chemical signals which instruct cells to make cilia. At the same time, we will be investigating genetic defects in a family with a rare cilia-related disease. This work has important implications for the treatment of a wide range of cilia-related diseases that include kidney failure, obesity and diabetes.