Genetic characterization of bladder exstrophy

Bladder exstrophy is a birth defect where babies are born with the bladder exposed to the skin. There is evidence that this developmental problem is caused by changes in genes. We have used new genetic techniques (genotyping arrays and next generation sequencing) to define the genes responsible for other bladder disorders and now propose to apply these to the identification of genes responsible for bladder exstrophy. The study will lead to accurate risk estimation of recurrence for parents with an affected child and an understanding of the reasons for this serious health problem. These are the first steps in developing personalised treatments for this condition. It will provide initial results, which will allow us to apply for research grant funding to study this condition in more detail.