Molecular bases of congenital bladder disease: the urofacial syndome (UFS)

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In the UK, there are 3,000-5,000 people who were born with abnormal kidneys and/or bladders who have such severe kidney failure that they can only survive by having regular dialysis or kidney transplants. The is increasing evidence that such individuals carry abnormalities of genes which normally help the bladder and kidney grow before birth. Finding the specific genetic causes of such disorders provides families with often long-sought answers to the question "why was our child born with kidney disease". The urofacial syndrome is a specific disease in which urinary bladder muscle does not behave normally. The condition starts before birth and people with the disease suffer life-long urinary incontinence and have a high risk of developing kidney failure. We were the first to describe changes in two genes responsible for this disease. Affected children inherit two copies of an altered gene, one from each parent, who themselves are healthy. We believe that the normal function of these genes is to help the growth of nerves into the bladder and that these nerves control the filling and emptying of the bladder. In this project we will search for other genes which cause the the urofacial syndrome and related conditions. These include 'primary vesicoureteric reflux', the backwards movement of urine from bladder to kidney, a condition which affects around 1 in 100 of all babies. To understand why these diseases happen, and what the genes do, we are studying models of the human condition. We will test novel treatments in these models with the aim of similar treatments being used in the future to treat people with bladder disease.