Biography

I am a Wellcome Trust Clinical Career Development Fellow and Honorary Consultant Urological Surgeon working at the Churchill Hospital, Oxford. My clinical and research interest is kidney stone disease. 

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. In 2011, I was appointed Wellcome Trust Clinical Training Fellow, joining Professor Thakker’s group as a DPhil student. I defended my thesis in 2015 and continued as a clinical academic between 2015 and 2020 as an NIHR Academic Clinical Lecturer in Urology. I took up my current post with the Nuffield Department of Surgical Sciences in 2021.

Kidney stones are a major clinical and economic health burden. Up to 50% of individuals who have formed a kidney stone will experience a second stone episode within 10 years of presentation and renal stone formers are at increased risk of chronic kidney disease. Current prevention strategies are relatively ineffective and the systemic and renal tubular mechanisms underlying this disease are poorly understood, thereby limiting opportunities to develop novel treatments. My research aim is to increase understanding of the pathophysiology of renal stone disease and to identify new therapeutic targets for the prevention of kidney stone recurrence.

Kidney stone formation may be due to rare monogenic disorders or, more commonly, be the result of a multifactorial process involving both genetic and environmental influences. I study both monogenic and polygenic factors that increase risk of nephrolithiasis.

As a DPhil student and post-doctoral scientist, I focused on disorders of the calcium sensing receptor (CaSR) signalling pathway. Loss-of-function mutations in components of the CaSR signalling pathway cause familial hypocalciuric hypercalcaemia type (FHH), whilst gain-of-function mutations are associated with autosomal dominant hypocalcaemia (ADH). Both FHH and ADH are associated with kidney stones. My work defined the genetic cause of FHH type 2 (FHH2), FHH3 and ADH2, facilitated improved molecular diagnosis of FHH and ADH and enabled better treatment of FHH3.

More recently, I have used large scale data to define causal variants and biological pathways that commonly cause kidney stones. Looking at data from the UK Biobank, the FinnGen study and cohorts from the United States, my group has shown that altered calcium-sensing receptor, increased urinary phosphate excretion, and perturbed vitamin D metabolism are likely to be common causes of kidney stone disease and that drugs that target these pathways may have the potential to be used as novel treatments for kidney stone prophylaxis. 

My long-term goal is to develop improved strategies to stop kidney stones forming and establish a precision medicine framework kidney stone disease.