Skip to main content

Clinical and Biomedical Sciences

Sarah leads the monogenic diabetes research programme in Exeter. She has published >250 papers on monogenic disorders of insulin secretion, has delivered 30 invited lectures around the world, and has received multiple highly prestigious international research prizes in recognition of her contributions to diabetes, metabolism and genetics. These include the European Association for the Study of Diabetes-SGGD Rising Star award 2015, the GB Morgagni Award 2018, the Genetics Society Balfour Lecture 2019 and the 2023 be Be My Sugar Top Researcher award. 

 

Sarah joined the monogenic diabetes research team at the Peninsula Medical school in 2003, enrolling on a PhD programme in 2005. Her thesis was submitted within 2 years and contained 6 peer-reviewed papers reporting novel genotype/phenotype relationships in neonatal diabetes and congenital hyperinsulinism.

 

Following her PhD Sarah worked as a post-doctoral fellow within the monogenic diabetes team where she contributed to the discovery of 9 genetic causes of permanent neonatal diabetes. For 3 of these genes she was lead author (Cell Metab 2014, Nat Genet 2014). During her post-doctoral training Sarah received funding which enabled her to spend time with Prof Deborah Mackay (University of Southampton) at the Wessex Regional Genetics laboratory learning techniques for the molecular diagnosis of transient neonatal diabetes due to defects in methylation at chromosome 6q24. In 2008 Sarah went on to receive a Heredity Fieldwork Grant from the Genetics Society which funded a secondment to the Department of Physiology, Anatomy and Genetics at the University of Oxford. Under the supervision of Dame Professor Frances Ashcroft Sarah undertook electrophysiology studies to investigate how highly penetrant disease causing mutations identified in humans affect K-ATP channel function in Xenopus oocytes.

 

In 2015, Sarah was awarded a highly prestigious Wellcome Trust/Royal Society Sir Henry Dale Fellowship which allowed her to develop a programme of research focussing on the genetics of Congenital Hyperinsulinism. In 2021, the award of a Wellcome Trust Senior Researcher Fellowship enabled her to continue this work. She was one of 20 female academics to participate in the first SUSTAIN Academy of Medical Sciences Leadership Programmes and was awarded a Personal Chair in 2023.

 

Sarah and her team have discovered 5 novel genetic aetiologies for this disorder (Proc Natl Acad Sci 2017, Pediatr Diabetes 2017, J Am Soc Nephrol 2017, Nature Genetics 2021). This programme of work complements the neonatal diabetes research that she is undertaking in Exeter as this condition shares many biological mechanisms and pathways with congenital hyperinsulinism. Further details regarding her research can be found on her team website,

View full profile