Richard joined Sheffield Children’s Hospital in 1999 as a trainee Clinical Scientist and is currently Lead Clinical Scientist in the Inborn Errors of Metabolism Section. His areas of expertise include the genetics of glycogen storage diseases, newborn screening, fatty acid oxidation disorders, peroxisome biogenesis disorders, urea cycle disorders, Wilson disease, familial hypercholesterolaemia, and the application of Next Generation Sequencing technology to the diagnosis of inherited metabolic disease.
Prior to joining Sheffield Children’s Hospital Richard worked in the Department of Medical Genetics at the University of Cambridge on a project investigating the possible link between mutations in mitochondrial DNA and bipolar affective disorder (Kirk et al. (1999) Am J Hum Genet 65: 508-518).
Richard’s professional commitments include EMQN Wilson disease EQA scheme organiser, UKNEQAS for Molecular Genetics Scientific Advisory Group member and ACGS Quality sub-committee member.
Richard gained an MA (Hons) at the University of Cambridge in 1996 then an MSc at the University of Newcastle upon Tyne in 1997. He has been registered with the Health and Care Professions Council (HCPC) since 2003 and became a Fellow of the Royal College of Pathologists (FRCPath) in June 2008.