I obtained a BSc in biochemistry from the University of Bristol. During this time I received a Wellcome Trust Vacation Scholarship to perform research in a lab during the holidays. It was this time that inspired me to pursue a career in biomedical research. I joined the laboratory of Professor Jeremy Tavare at the University of Bristol, where I earned my PhD studying the signalling pathways regulated by insulin. After my graduate studies, I joined the laboratory of Professor Ben Margolis at the University of Michigan studying the signalling mechanisms that regulate epithelial cell polarity. During this time, my work uncovered a role for cell polarity proteins in regulating the formation of primary cilia. Primary cilia can be found on virtually all vertebrate cells and are the subject of intense research as there is a growing group of genetic diseases termed “ciliopathies” that arise due to cilia dysfunction.   I continued my research on cilia when I was recruited as a junior faculty member to the laboratory of Professor Friedhelm Hildebrandt. Here my research involved the identification of novel ciliopathy genes by whole exome capture and next generation sequencing techniques. Now as a Chancellor’s Fellow, my research group is focused on understanding the molecular mechanisms of disease onset and progression caused by mutation of cilia-associated genes. I am particularly interested in those ciliopathies affecting the retina and kidney, and the development of screening strategies to identify novel therapeutic targets.

Molecular mechanisms of disease in renal and retinal ciliopathies.

A growing number of human genetic diseases termed “ciliopathies” arise due to mutations in genes that regulate the formation or function of a microtubule-based organelle termed the cilium. Cilia regulate a diverse array of cellular functions critical to development, tissue homeostasis and sensory perception. The most common ciliopathies affect the kidney, manifesting as progressive loss of renal function in both children (nephronophthisis, ARPKD) and adults (ADPKD) ultimately leading to renal failure, dialysis and kidney transplant. Moreover, extra-renal manifestations such as retinal degeneration (progressive loss of visual acuity) are frequently observed in syndromic ciliopathies. We wish to understand at the molecular and organismal level how mutation of causative genes alters cellular function and ultimately leads to onset and progression of disease.