Tim Goodship is Professor of Renal Medicine and Honorary Consultant Nephrologist in the Newcastle upon Tyne Hospitals NHS Foundation Trust. He qualified at Guys Hospital having also undertaken an intercalated degree in Pharmacology. He trained in renal medicine in Newcastle and Boston. His research is focussed on the genetics of renal disease. In addition he is Chairman of the Board of Trustees of Kidney Research UK.
Atypical Haemolytic Uraemic Syndrome (aHUS) is an acute condition in which glomerular capillaries are occluded by micro-thrombi resulting in acute renal failure. Most patients do not recover renal function and require long term renal replacement therapy. In 1998, my group was the first group to identify mutations in the complement regulatory protein factor H (CFH) in this condition and subsequently we have described further mutations which cluster in the C terminal region of the gene. Since then we have described mutations in the transmembrane complement regulator, membrane cofactor protein (MCP), the serine protease factor I (IF) and the activator C3 (C3) in other aHUS patients and families. We have shown that gene conversion between homologous genes in the RCA (regulation of complement activation ) gene cluster at 1q32 leads to mutations in CFH and non homologous recombination in the RCA cluster results in hybrid complement genes. We have also established that there are naturally occurring susceptibility factors in CFH and MCP for the development of aHUS. We continue to seek other genes and modifiers associated with the development of aHUS and have also extended this to examine whether similar factors may be important in the development of glomerulonephritis and age related macular degeneration. Other PIs within the IHG who have collaborated on this project include Professor Judith Goodship, Dr Mike Jackson and Dr David Kavanagh. We also collaborate with Professor Neil Sheerin and Dr Kevin Marchbank in the ICM on this project.
Vesicoureteric reflux (VUR) is the retrograde passage of urine from the bladder into the upper urinary tract. VUR affects young children and in 80% resolves by the age of ten. About a quarter of affected children have an associated nephropathy (reflux nephropathy also known as chronic pyelonephritis). In most this is secondary to scarring associated with ascending bacterial infection but in some the nephropathy is part of the developmental abnormality. Depending on the severity of the nephropathy, proteinuria, hypertension and renal failure may ensue. VUR runs in families; up to 50% of siblings and offspring of affected individuals have the condition. In collaboration with workers at the Institute of Child Health in London, my group in 2000 were the first group to identify chromosomal linkage in VUR. Funded by the Wellcome Trust we have undertaken a DNA collection from VUR families in both the United Kingdom and Slovenia. We have collected DNA samples from 189 UK and 140 Slovenian families. We have now undertaken a genome wide scan using this resource which has identified several regions of interest. Other PIs within the IHG who have collaborated on the project include Professor Judith Goodship and Professor Heather Cordell.