The genome contains the complete set of DNA that provides instructions for cells and tissues to develop and function. Genomic medicine integrates insights from the genome with information about a person’s health to design and apply improved diagnostic tools and treatments, as an essential component for personalised medicine. Research in genomic medicine goes beyond identification of risk factors and aims at pinpointing underlying causal mechanisms, often at various biological scales.
Mathematics, statistics and AI/ML methodologies play a crucial role in deciphering, extracting knowledge and prioritising information from high-throughput and high-dimensional molecular ‘omics data. The technology in this space has been developing with immense speed over the past decade and continues to do so, together with major AI/ML methodological developments and opportunities, within both academia and industry.
The UK continues to be a world-leader in genomic medicine, having generated multiple publicly available biobank-scale databases such as the UK Biobank and Generation Scotland. The School of Informatics has close links and multiple ongoing collaborations with the Institute of Genetics and Cancer, home to the MRC Human Genetics Unit (HGU), Edinburgh Centre for Genomic and Experimental Medicine (CGEM) and the Edinburgh Cancer Research Centre (ECRC).
Dr. Ava Khamesh
Research Theme Lead
Genomic Medicine