Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Churchill Hospital, Headington, Oxford, OX3 7LJ
Wellcome Trust Centre for Human Genetics, Roosevelt Dr.
As a postdoctoral scientist within the groups of Professors McCarthy and Gloyn I play an active role in StemBANCC, an Innovative Medicines Initiative-funded, EU-wide consortium that aims to generate 500 patient-derived induced pluripotent stem cell (iPSC) lines. iPSCs are created by reprogramming any cell type, such as fibroblasts (that can be obtained from a simple skin biopsy), back to their pluripotent state via over-expression of a cocktail of transcription factors. Achieving pluripotency means that these cells can then be re-differentiated into any other cell type of choice. My research uses in vitro differentiation techniques on iPSCs to generate pancreatic lineage cells which would normally be inaccessible without surgery, thus providing us with an invaluable diabetes-relevant cell model for further study.
As iPSCs are highly amenable to genetic manipulation, I am also interested in modifying the genome of these cells (and other cell lines) using site-specific nucleases such as the CRISPR/Cas9 system. I lead on a number of projects that use this technology to understand the functional impact of genetic variants and mutations on pancreatic progenitor and mature cell function, with the overall aim of linking these genetic defects back to a role in diabetes pathogenesis.
Before joining the McCarthy and Gloyn teams in Oxford in 2012, I was a Fulbright-Diabetes UK Post-Doctoral Fellow in the laboratory of Professor David Altshuler in the Medical and Population Genetics Program at the Broad Institute of Harvard and MIT (MA, USA). I conducted my DPhil (PhD) in Clinical Medicine in OCDEM under the supervision of Professors Anna Gloyn and Patrik Rorsman, and I have also spent time working in the laboratory of Professor Francis Collins at the National Institutes of Health (MD, USA) and the Cardiovascular and Gastrointestinal Drug Discovery department of the pharmaceutical company AstraZeneca.
Flannick J, Thorleifsson G, Beer NL et al. Loss of function mutations in SLC30A8 protect against type 2 Diabetes. Nature Genetics 2014;46:357-63.
Flannick J, Beer NL, Bick AG, et al. Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes. Nature Genetics 2013;45:1380-1385.
Beer NL, Van de Bunt M, Colclough K et al. Discovery of a novel site regulating glucokinase activity following characterisation of a new mutation causing hyperinsulinaemic hypoglycaemia in humans. Journal of Biological Chemistry 2011;289:4081-4088.
Beer NL, Tribble ND, McCulloch LJ, et al. Functional studies demonstrate a mutational mechanism for the GCKR P446L variant which is reproducibly associated with fasting plasma glucose and triglyceride levels in the general population. Hum Mol Genet 2009;(21):4081-4088.