Overview

James joined the monogenic diabetes team at Exeter as a PhD student in December 2021. His interest in monogenic diabetes stemmed from studying the genetics of rare diseases during his MSc in bioinformatics, completed at Cardiff University. In his PhD he is studying monogenic diabetes genetics under the tutelage and supervision of Dr Elisa De Franco, Prof Sarah Flanagan, Dr Matthew Johnson and Dr Matthew Wakeling.

James’ background in bioinformatics also means he is proficient in the development of pipelines to process and analyse genomics data, with particular experience in working with next generation sequencing (NGS) data. For his MSc dissertation project, James developed two Nextflow single-cell RNA-seq (scRNA-seq) pipelines based on different scRNA-seq quantification tools.

Qualifications

• BSc (hons) Zoology (Cardiff University)
• MSc Bioinformatics (Cardiff University)

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Research

Research interests

James’s research interests focus on the genetics of rare diseases. Currently on his PhD, he is studying the genetic causes of neonatal and early onset diabetes. Through the use of next generation sequencing and other genomic methods, he hopes to identify novel genetic causes of these monogenic forms of diabetes.

James is also fascinated by the mechanisms by which deleterious genetic variants manifest as a disease phenotype. In particular, he enjoys learning about the knock-on effects of deleterious variants on gene regulatory networks and chromatin accessibility.

Research projects

• Defining the genetic causes of neonatal and early onset diabetes.

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Publications

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