Søren Thomsen was born in Denmark, and received both his Bachelor’s degree (BA in Natural Sciences, Part II Biochemistry, 2012) and Master’s degree (MSci in Natural Sciences, Part III Systems Biology, 2013) from the University of Cambridge, UK. During those years, Søren undertook research projects on a diverse range of topics, including RNA-based self-replication at the MRC LMB in Cambridge (supervised by Dr Philipp Holliger, 2012/13), and the mitogenic effects of insulin signalling, at both Joslin Diabetes Center (supervised by Professor Ronald Kahn, 2012) and the Hagedorn Research Institute (supervised by Professor Pierre de Meyts, 2011).
Since then, Søren has taken up his current position as a DPhil student at the Oxford Centre for Diabetes, Endocrinology & Metabolism, under the supervision of Professor Anna Gloyn and Professor Mark McCarthy. Broadly, the aim of his project is to study the molecular mechanisms through which genetic association signals exert their effect on type 2 diabetes (T2D) risk. Most of such currently established signals map to intergenic regions, and inferring the effector transcripts thus presents a significant challenge. One major focus of Søren’s project is to apply high-throughput screening and single-cell resolution techniques to study genes at T2D-associated regions, thereby assessing the potential role of regional transcripts in insulin secretion and beta-cell identity. In this way, the gene-level information can be used to establish biological priors, which can be integrated with existing genetic and genomic information to prioritise effector-transcript candidates at T2D loci. Informed by this approach, a second part of Søren’s work will use genome editing and other approaches to validate and study selected candidates in greater detail.
In his free time, Søren is a keen sportsperson, currently focusing on mountain biking, hiking and squash. He is also an amateur astronomer and interested in various aspects of academic entrepreneurship.
Thomsen SK and Gloyn AL. The pancreatic beta cell: recent insights from human genetics. Trends Endocrinol Metab 2014;25:425-434.
Raimondo A, Chakera AJ, Thomsen SK et al. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. Hum Mol Genet 2014;Jpii: ddu360.
Prioritising Causal Genes at Type 2 Diabetes Risk Loci
Grotz AK. et al, (2017), Current Diabetes Reports, 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
The Importance of Context: Uncovering Species- and Tissue-Specific Effects of Genetic Risk Variants for Type 2 Diabetes
Thomsen SK. et al, (2016), Frontiers in Endocrinology, 7
Loss-of-Function Mutations in the Cell-Cycle Control GeneCDKN2AImpact on Glucose Homeostasis in Humans
Pal A. et al, (2016), Diabetes, 65, 527 - 533