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Rebecca Tooze

BSc (Hons)

DPhil Student

Clinical Genetics

DPhil Student

I am reading for a DPhil in Medical Sciences under the supervision of Professor Andrew Wilkie and Dr Stephen Twigg. Working within the clinical genetics group at the Weatherall Institute of Molecular Medicine, my research focusses on identifying pathogenic variants of craniosynostosis, a rare genetic disease resulting from the premature fusion of one or more cranial sutures during early development. 

The project will explore data accessed from the 100,000 Genome Project with particular emphasis on patients with bicoronal or multisuture synostosis, which are commonly monogenic. The findings will be integrated with whole exome and genome data, previously sequenced by the Wilkie Group, from over 100 unsolved craniosynostosis patients. Using a variety of computational biology techniques and genetic models, my research aims to identify unknown disease variants in order to enhance scientific understanding and provide guidance and support to patients; ultimately, this research may pave the way towards developing new diagnostics. 

I hold the Radcliffe Department of Medicine Scholarship and am grateful to Exeter College and the MRC WIMM for their continuing support. 

Previous to my DPhil Studies

I recently graduated from the University of Exeter in 2019 with a first-class honours degree in Biological Sciences (Molecular and Cellular Biology). I was awarded a Dean’s Commendation for Exceptional Academic Performance, and received a prize for the best performing student at the undergraduate student conference. During my degree I spent one year studying at Monash University, Melbourne, where I undertook research in an experimental evolution laboratory while also working as a lab assistant within an immunology lab. Upon my return to the UK I undertook an 8-week placement with CRUK Beatson Institute, focusing on investigating metabolism in colorectal cancer.