DPhil, MRCS (Eng), MA (Cantab)
Academic Clinical Lecturer in Urology
I am a researcher and trainee in urological surgery. My research is based in the Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, where I work as part of Professor Rajesh Thakker's group. I studied medicine at Cambridge and Oxford Universities between 1999 and 2005 and since qualification have worked in the Oxford region, entering the Urology training scheme in 2010. I was appointed as a Wellcome Trust clinical training fellow in 2011 and as an NIHR Academic Clinical Lecturer in Urology in 2015.Kidney stone disease is a common problem, affecting up to 20% of men and 10% of women by 70 years of age. Hypercalciuria is linked to an increased risk of forming such stones and my research focuses on trying to understand the tubular process regulating calcium excretion. My approach is to study monogenetic disorders causing either hypercalcaemia or hypercalciuria and identify the molecular pathways resulting in this phenotype.
Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
Piret SE. et al, (2016), J bone miner res, 31, 1207 - 1214
Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.
Babinsky VN. et al, (2016), J biol chem, 291, 10876 - 10885
Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.
Howles SA. et al, (2016), N engl j med, 374, 1396 - 1398
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hannan FM. et al, (2015), Hum mol genet, 24, 5079 - 5092
Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).
Rogers A. et al, (2014), J clin endocrinol metab, 99, E1300 - E1305