Current projects

1)    Functional characterisation of genetic variation involved in susceptibility to common disease
The majority of the genetic variation associated with common, chronic disease is located in non-coding regions of the genome. In many cases, the precise identity of the genes affected, or even which exact variant drives the association is not clear. Our studies aim to provide mechanistic insight into how genetic variation brings about disease susceptibility, by targeted study of the effect of variation in genomic regions associated with small and
long RNA regulation, alternative splicing and epigenetic regulation of gene expression.

2)    Molecular Mechanisms of human ageing
Ageing is associated with practically all common, chronic disease in man. Our work has shown that the majority of genes that show expression differences during human ageing are involved in transcript processing during gene expression. This is important because these mechanisms provide the ‘fine tuning’ of global gene expression and disruption of these processes is predicted to have far-reaching consequences for cellular function and homeostasis.

3)    Mechanistic basis of the effects of endocrine disrupting chemicals
Endocrine disrupting chemicals such as Bisphenol A (BPA), Perfluoro-octanoic acid (PFOA) and perfluorooctane sulphonate (PFOS) are pervasive environmental contaminants to which we have near global exposure. BPA and PFOA have been associated with several chronic diseases (BPA; cardiovascular disease and type 2 diabetes and PFOA; High cholesterol, thyroid disease, ulcerative colitis, pregnancy induced hypertension, testicular cancer, and kidney cancer). Our work has shown that these compounds may act by altering the expression of genes involved in oestrogen signalling (BPA) or reverse cholesterol transport (PFOA).