Our laboratory is directly linked to the Henry Wellcome Building for Human Genetics which contains the Wellcome Trust Centre for Human Genetics, a world leading centre involved in defining genes influencing both monogenic and polygenic disorders. Clinicians working within The Henry Wellcome Building for Molecular Physiology have a particular interest in inherited renal diseases. We have been involved in a multicentre programme to look for genes associated with IgA nephropathy, vasculitis, minimal change nephropathy and membranous glomerulonephritis jointly funded by the MRC and Kidney Research UK.
A well archived collection of material from patients and their relatives has been completed. Genome wide association studies are also underway.
In addition, we have identified a small number of families with unusual inherited renal diseases amongst the population looked after by the Oxford Kidney Unit (details on Renal Association and Oxford Radcliffe Hospitals websites) and as the number of affected and unaffected individuals in these families increases we will investigate their genetic bases further in due course.
In collaboration with colleagues in Respiratory Medicine and Respiratory Physiology we are investigating the effects of genetic variants of the HIF pathway on both pulmonary function at low attitude, and altitude acclimatization.