Kids Kidney Research

The majority of kidney disorders in childhood are present from birth (congenital). An inherited (genetic) basis is very likely in these cases. Identifying the underlying gene(s) is desirable, as it provides an accurate diagnosis, which will provide the patient and their family with precise information about the condition, enable planning for care (medical, social, educational) and put them in contact with relevant patient and support organisations. It allows appropriate genetic counselling of the family and informs about treatment and prognosis. Moreover, it provides new knowledge about the nature of the underlying problem and thus enables the development of potential new treatments. Disease gene identification, however, has been difficult due to the labour and time demanding task of sequencing potential underlying genes in order to identify the actual disease-causing mutation. New technologies now dramatically accelerate this process. We propose to apply these new technologies to identify new disease genes and mutations in patients followed at the Renal Unit at Great Ormond Street Hospital.