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Functional mechanisms

Large-scale genetic association studies have been extremely successful in identifying a large number of genetic variants that predispose to complex human traits.

We have been enormously successful in identifying genetic regions associated with rheumatoid arthritis, juvenile idiopathic arthritis and and psoriatic arthritis.

One of the biggest challenges in human genomics now is to interpret the functional consequences of these variants.

The majority of genetic associations to date are with markers that are intergenic and potentially may affect gene regulation.

Our research focuses on the identification of causal variants and genes within regions associated with complex traits.

We use a combination of genetic analysis, bioinformatic tools and functional experiments to investigate how the variants affect gene expression and function, and how that ultimately affects disease pathways.