Identification and characterisation of a gene conferring susceptibility to Focal Segmental Glomerulosclerosis

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Kidney disease is a serious and increasing health problem, especially in older people. Up to 20% of people with end-stage kidney failure have a particular pattern of kidney scarring called FSGS. This can occur spontaneously, or more commonly is due to the effects of other conditions, including diabetes, obesity, and high blood pressure. Recently scientists have begun to look at a number of families where the spontaneous form of FSGS appears to be inherited. By doing this they have discovered a number of different genes that are crucial to the normal functioning of the kidney. When they go wrong, the abnormal genes cause progressive kidney scarring and FSGS.We have identified a family with an inherited pattern of kidney failure and FSGS. Preliminary analysis shows that the genetic problem is different from those that have already been discovered. I plan to find the gene responsible for the disease in this family. I will then investigate what the gene does normally, and what goes wrong to cause this pattern of kidney disease. We hope to learn more about the scarring process that is seen in common diseases, and ultimately find a way to prevent this condition from causing kidney failure.