Genomics and Pharmacogenomics of Hypertension
There are over 1 billion people with high blood pressure (HTN) worldwide and the World Health Organisation estimates that this will rise to 1.5 billion by 2020. In adults, there is a continuous, incremental risk of cardiovascular disease, stroke, and renal disease for example for every 20 point increase in BP, cardiovascular disease risk doubles. The high prevalence of HTN and its consequent significant adverse economic impact on the individual and population, highlights the importance of early diagnosis and effective treatment of HTN. The causation of HTN is complex with the involvement of multiple biological pathways and environmental factors. A strategy to ameliorate the burden of HTN would be through early diagnosis and targeted pharmacological or non-pharmacological interventions. This necessitates a more individualised understanding of the underlying dysfunctional pathways in a particular individual. Current strategies have focussed on identifying DNA variations primarily in the form of single nucleotide polymorphisms (SNPs) that are associated with BP regulation or HTN and thus provide the starting point for functional dissection and clinical studies.
The Biomarkers and Systems Medicine (BSM) group was set up by Professor Harald Mischak to investigate the use of proteomic/peptidomic biomarkers as a method for the early detection of disease states. He has been joined in his research by Dr Bill Mullen whose previous focus was in metabolomics in nutrition and health.
The aim of the group was to develop panels of biomarker from body fluids that would provide clinically applicable tests in the diagnosis and monitoring of diseases, as well as being able to provide clinicians details of progress in therapeutic treatments. The long term goal being personalised medicine, where simple analysis of an individual’s proteome can help diagnose specific conditions and inform and monitor treatment.