Our project aims to advance scientific knowledge by studying the association between patient specific characteristics in disease states and underlying associations with novel genetic mutations. The disease states we plan to study include aneurysms, arrhythmias, cardiomyopathies, and clotting disorders. The key aim of these projects will be to verify novel discoveries across a much larger sample, as contained in the UK Biobank. In the medical and scientific community, this type of research is known as phenotype to genotype correlation and has been well established as a method to advance knowledge of disease states.
The public benefit of our research may eventually lead to enhanced diagnosis, and more appropriate treatments of the conditions which we will study.