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Genetic and cellular basis of functional cilia assembly

Principal investigator: Pleasantine MILL (University of Edinburgh)
Funding source:
 Value: £1,471,773
 Start: 02-04-2018  /  End: 01-03-2023
Cilia are specialized structures found on the surface of most mammalian cells, playing key sensory and sometimes movement functions. Defects in cilia function result in a broad range of genetic diseases termed ciliopathies. These can have devastating effects on human development (birth defects) or postnatal health, including blindness, obesity and kidney failure. Hundreds of genes are involved in building and maintaining this highly conserved structure, which is highly dynamic and biochemically complex. However, we know very little about why some cilia types are more affected in human disease than others. In order to understand how different cell types have configured cilia as specialized signaling ‘antennae’ to interpret environmental signals, we have engineered a series of mice expressing the latest molecular tags and markers to allow us to exquisitely profile cilia subtypes, in both healthy and diseased states.

Ciliopathies are rare genetic diseases, for which there are no effective treatments. For a subset of these diseases affecting accessible tissues, like the airways of primary ciliary dyskinesia (PCD) patients, we have been developing genome editing strategies to determine can we fix the right cells types efficiently and whether this is treatment well-tolerated.
We hope to better understand the disease mechanisms underlying ciliopathies in order to develop effective diagnostic as well as therapeutic strategies to benefit patients and their families.
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