Co-Theme Leads: Professor Panos Deloukas and Professor Patricia MunroeThe Precision Genomic Medicine theme capitalises on Europe’s largest heart hospital, the Barts Heart Centre (~85,000 episodes/year).
We a driving forward a pan-rare disease re-analysis of 100KGP families harnessing this infrastructure to undertake advanced genomic analyses, AI, multi-omics and functional genomics to solve really challenging rare heart rhythm disorders where we have created national platforms and the current diagnostic yield is 7.5%.
By combining the strengths and patients at Barts and St George’s Hospitals including the St George’s Inherited Cardiac Conditions and Sudden Death Biobank, we are transforming diagnostic yield in rare heart rhythm disorders and unexplained sudden death and evaluating the role of inflammation. This benefits from BRC integrated platforms combining digital pathology (cardiovascular, musculoskeletal and cancer), whole genome sequences with single cell multi-omics to enable family screening to avoid death.
Furthermore, combining our unique patient and population resources, we are tackling cardiovascular disease (CVD) by improving patient care and promoting disease prevention in diverse communities. In addition, we are defining a comprehensive repertoire of somatic adrenal mutations driving hypertension and evaluate novel therapeutic strategies.
We have four research questions upon which we will answer utilising our strengths within this theme. These are:
1. Can integrated deep phenotyping with multi-omics and advanced analytics make a step change in diagnosis of arrhythmias and inflammatory cardiomyopathies?
2. Can polygenic risk scores (PRS) be optimised for improving CVD patient care and disease prevention in diverse communities?
3. Can somatic mutations in primary aldosteronism (PA) guide patient stratification and novel therapies?
4. Can CVD molecular signatures drive discovery and precision therapy, maximising benefit: risk for patients under-represented in conventional trials?