I qualified in Medicine from Newcastle University in 1991, obtained my MRCP in adult medicine in Glasgow, subsequently worked in paediatrics in Stirling, and then undertook training in Clinical Genetics at Yorkhill Hospital (1996 - 1999). Inspired by Professor John Stephenson and Dr John Tolmie I became interested in neurogenetics and moved to Leeds where I undertook a PhD on the genetics of Aicardi-Goutières syndrome (AGS) with Dr Geoff Woods and Sir Alex Markham. Between 2001 and 2006 I was a full-time NHS consultant in the Yorkshire Regional Genetics Service, at which point I took up a post as Senior Lecturer in the Leeds Institute of Molecular Medicine working closely with Professor David Bonthron. In 2008 I became a Professor in Genetic Medicine at the University of Manchester.
My work has two main themes:
1. Type I interferonopathies - most particularly AGS. My work on AGS has proven to be of considerable scientific interest, and has led to the study of Mendelian forms of systemic lupus erythematosus (SLE) and the concept of grouping disorders where 'too much' type I interferon is considered directly relevant to pathogenesis.
2. Paediatric neurogenetics. Taking intracranial calcification as a diagnostic starting point has allowed for the delineation of a number of other clinical entities, demonstrating this radiological sign, some of which are currently under investigation by our group.