Bringing together scientists, clinicians and statisticians, our grouping takes a multidisciplinary approach to understanding the molecular genetics underlying a range of acute and chronic renal and endocrine disorders.
Our renal researchers have made pioneering discoveries of genes and genetic pathways associated with HUS, cystic kidney disease, nephrotic syndrome and Wilms’ tumour – disorders affecting more than 1 in 1,000 children. Current work includes developing disease models and probing underlying genetic mechanisms.
In addition, we are particularly interested in the genetics of common, complex and chronic disease that represent an increasing challenge to the aging population. The incidence of chronic renal disease is rising sharply, for example, it is estimated that up to 10% of the population have chronic kidney disease and the incidence of kidney failure is rising by 5% per year. Currently chronic kidney disease alone accounts for 3% of the total NHS budget.
Similarly, 3% of the UK population take levothyroxine as thyroid replacement and up to 10% of the population have mild or subclinical thyroid disease. The cost to the NHS of medicines prescribed for endocrine disorders ranks 3rd only behind those for cardiovascular and central nervous systems. We have identified several susceptibility alleles for thyroid overactivity (Graves’ disease) and are currently running a clinical trial of a novel immunotherapy for thyroid eye disease. We are the lead group in a European consortium to identify novel genes for Adrenal gland failure (Addison’s disease) and have an active programme of regenerative medicine studies in this condition.
Our twin approaches of seeking improved understanding of pathophysiology, together with pragmatic clinical trials should lead to new therapeutic strategies to improve patient outcome and reduce the burden of these conditions on the NHS.