Disentangling relationships between genotype and phenotype in complex genetic disorders, with particular application to liver and kidney disease

Genome-wide association studies investigate genetic variation (changes to the DNA sequence) across the entire genome, to see which changes correlate with disease or disease-related outcomes. We want to both detect such correlations and understand the biological mechanisms behind them. 

We will measure potential intermediate processes such as gene expression (where DNA is transcribed to RNA), DNA methylation (the presence or absence of a chemical modification to the DNA sequence) and measurements of proteins (based on the amino acids into which RNA is translated), in a set of diseased and non-diseased individuals. These measurements can also be extrapolated to other diseased and non-diseased individuals with genetic data available. We will develop improved statistical methods and accompanying software implementations in order to carry out the required data analyses. 

The work carried out will allow us to better understand the biological processes leading to disease development, and thus to propose potential therapies and cures.