One step beyond

Whether its a new gene in which mutations cause a rare disease, or a novel gene pathway involved in a complex trait, we are interested in identifying the potential mechanisms that link the genotype to the phenotype. In collaboration with Dr Dan Osborn we are using zebrafish as an in vivo model to functionally characterise novel findings.

Zebrafish

Zebrafish produce large quantities of eggs, they're transparent allowing development to be studied under the microscope, they develop quickly, and are easy to genetically manipulate. The zebrafish will also be used as a platform to complement GWAS across a broad range of traits.

OMICS

Many genetic loci have been shown to control gene expression (expression quantitative trait loci (eQTL)), and these can be used to help interpret findings from genome-wide association studies (GWAS), as well as providing a framework to model biological networks. Other 'omics technologies which incorporate proteins, and metabolites, are also proving useful in closing the gap from genotype to phenotype.

BIOMARKERS

We are interested in identifying peripheral blood mRNA and microRNA biomarkers in the conditions we study. microRNAs (miRNA) act as regulators of mRNA expression and their study has led to new insights as to how gene expression is regulated. There are just over a thousand miRNAs, and each one can regulate hundreds of target genes.