Kids Kidney Research

Kidney failure is a devastating disease in childhood, with reduced life-expectancy and quality of life. About half of these children were born with kidneys which have not formed properly before birth.

It is know known that over 20 genes must be active before birth to form a normal kidney and research has shown that some children born with malformed kidneys have abnormalities of such genes. A big problem, however, is that clinical gene testing in the UK is readily-available for only a one such gene, and this poses a potential block in translating the wealth research discoveries about other genes into clinical practice.  In this study, we will pioneer a new technology, which will allow the rapid testing a multiple genes in such children. Finding mutations in such children will provide families with explanations for the kidney disease and also lead to opportunities for genetic counselling. Thus we see the development of this new technology as a critical tool which, if our pilot study proves successful, could rapidly be translated into the NHD clinical arena, to the benefit of children and families beyond those seen at Great Ormond Street Hospital.