Wellcome Trust Centre for Human Genetics, Roosevelt Dr.
My interest in science started back when I was at school in Rutland. I went on to study A-levels in biology and chemistry before moving on to attend Oxford Brookes University where I studied for a BSc in Human Biology. My first science job was working for a genetics company (OXAGEN), were I stayed for 5 years before coming to OCDEM in 2004.
When I first joined OCDEM I worked on a large EU funded project (MolPAGE) led by Professor Mark McCarthy which aimed to identify biomarkers (proteomic, metabolomic, transcriptomic) relevant to type 2 diabetes. My primary role was establishing sample collection and storage standardisation. I was able to build on this experience as part of a subsequent collaborative effort, the MuTHER consortia, where one of the aims was to investigate the genetic control of gene expression across multiple tissues using various samples taken from the UKTwin BioResource.
In 2011 I joined Professor Gloyn’s group and since then have been supporting a range of research projects. Currently I am investigating the impact of nonsynonymous variants in the glucokinase (GCK) and glucokinase regulatory protein (GCKR) genes on the function of these key regulators of insulin secretion & glucose disposal.
Outside of work I enjoy running/jogging and was pleased to have recently completed the Oxford Half Marathon 2014. I am also a member of the PTA for my children’s school as well as the secretary for the Minster Lovell scouting groups and help to organise the kitchen for the Oxford RFC mini and juniors.
Raimondo A, Chakera AJ, Barrett A, 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;pii:ddu360.
Rees MG, Raimondo A, Wang J, et al. Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families. Hum Mol Genet 2014;23:5570-8.
Grundberg E, Meduri E, Sandling JK,et al. Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements. Am J Hum Genet 2013;93:876-90.
Rosengren AH, Braun M, Mahdi T et al. Reduced insulin exocytosis in human pancreatic β-cells with gene variants linked to type 2 diabetes. Diabetes 2012;61:1726-33.
Beer NL, Osbak KK, van de Bunt M, et al.Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis. Diabetes Care 2012;35:1482-4.