The role of the Frem proteins in development and disease

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Rare genetics diseases can often provide us with insights into some of the fundamental mechanisms which control how we develop and live healthy lives. We have identified a family of genes called the Fras and Frem genes and some of these are mutated in a disorder called Fraser Syndrome. Fraser Syndrome patients have profound defects in the normal development of their skin and kidneys. We are studying the function of these genes with a view to understanding not just how Fraser Syndrome develops, but how our organs develop normally. The genes involved in FS contribute to the extracellular matrix which is effectively the scaffolding which our cells use when developing into our organs. The extracellular matrix is also important in maintaining our adult tissues and responding to damage. It can act as a physical support and as a key controller of how ours cells react to growth factors and to each other. This proposal will explore how the Fras and Frem genes mediate these interactions to control normal development and also to determine how their mutation gives rise to disease. In doing so we hope to gain insights into more common diseases which affect both the kidney and the skin.