BA; MA; MSc
I am a DPhil student at the Oxford Centre for Diabetes, Endocrinology & Metabolism, working under the supervision of Professors Anna Gloyn and Mark McCarthy. My research centres on exploring the genetic susceptibility to type 2 diabetes, using a combination of clinical, genomic, and cellular approaches.
To date, more than 100 genetic association signals for type 2 diabetes risk have been uncovered, but progress towards understanding the underlying molecular mechanisms remains slow. This experimental bottle-neck has limited both translational opportunities and insights into the pathophysiological mechanisms that lead to disease. By using a range of different experimental approaches, my work has contributed to advancing our understanding of the genetic mechanisms that drive beta-cell dysfunction, insulin insufficiency, and ultimately diabetes.
Recently, a major focus of my work has been on applying high-throughput screening and single-cell resolution techniques to study genes at disease-associated regions, thereby assessing the potential role of regional transcripts in insulin secretion and beta-cell identity. In this way, information about the role of each gene in a disease-relevant tissue can be integrated with existing genetic and genomic information to prioritize causal genes at type 2 diabetes loci.
I am currently working on extending this approach to apply pooled CRISPR-Cas9 genome editing in combination with transcriptomic phenotyping. This could provide information about the molecular pathways underpinning type 2 diabetes, and ultimately inform new therapeutic options.
Prioritising Causal Genes at Type 2 Diabetes Risk Loci.
Grotz AK. et al, (2017), Curr diab rep, 17
Human genetics as a model for target validation: finding new therapies for diabetes.
Thomsen SK. and Gloyn AL., (2017), Diabetologia, 60, 960 - 970
Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants.
Thomsen SK. et al, (2016), Diabetes, 65, 3805 - 3811
Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans.
Pal A. et al, (2016), Diabetes, 65, 527 - 533
The Importance of Context: Uncovering Species- and Tissue-Specific Effects of Genetic Risk Variants for Type 2 Diabetes.
Thomsen SK. et al, (2016), Front endocrinol (lausanne), 7