I graduated with a PhD in Biochemistry from the University of Adelaide, Australia in June 2011 with a thesis that focused on several aspects of Single-Minded 1 (SIM1) function: firstly, the identification of direct target genes for this developmental transcription factor; and secondly, functional characterisation of novel SIM1 missense variants identified in individuals with severe or syndromic obesity.
The latter investigations provided evidence of a link between natural variation in SIM1 function and obesity, and gave me an appreciation of the genetics and molecular biology of disease that I was able to bring with me to Oxford when I joined Professor Anna Gloyn’s group as a postdoctoral researcher in September 2011. As a member of Anna’s group I am interested in the mechanisms by which both coding and non-coding variants influence T2D risk. I lead on a number of projects, where I am responsible for the development of functional assays to study the impact of non-synonymous variants in genes that are implicated in T2D risk.
This is exemplified by recent publications that explore the heredity and functional roles for Glucokinase (GCK) and Glucokinase Regulator (GCKR) as key mediators of glucose and lipid metabolism. I am also involved in efforts to understand how non-coding variants associated with T2D risk alter gene regulation in human pancreatic islets.
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;doi: 10.1093/hmg/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.
Raimondo A, Bonnefond A, Stutzmann F, et al. Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-Like syndrome features. The Journal of Clinical Investigation 2013;123:3037-41.
Raimondo A, Ramachandrappa S, Cali AM, et al. Human mutations in the basic helix-loop-helix transcription factor Single-minded 1 (SIM1) are associated with severe, early onset obesity. The Journal of Clinical Investigation 2013;123:3042-50.