Genetic Susceptibility to Rheumatic Heart Disease

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Rheumatic heart disease (RHD) results from an excessive response to common bacteria called either Streptococcus pyogenes or Group A Streptococcus. An excessive response to the bacteria, mediated by the immune system, our toolkit for fighting infection, leads to damage to heart valves, termed RHD. The consequences include heart failure, stroke and infective endocarditis (heart valve infection) and together kill at least 500 000 people worldwide each year, as many as breast cancer.In areas of poverty and over-crowded living conditions, particularly in the developing world, both RHD and bacterial skin and throat infections are common. Only a fraction of individuals infected by the causative bacteria go on to develop RHD. Although environmental factors such as poverty play a part, I believe that differences in our genome, the inherited blueprint for our bodies, might play a role as has been shown to be the case in other diseases. To read the genome we will ask patients and volunteers for a blood sample and use technology that simultaneously reads variation at approximately 200 000 points. Knowledge of these differences might further understanding of the interaction between infection and immunity, and potentially generate approaches to vaccine development.