The pathogenesis of RHD is complex and both environmental and genetic elements are contributing factors. While environmental aspects clearly contribute to elevated rates of RHD, the RR genetics team has collected data that suggests a genetic contribution to RHD risk. The Rheumatic Relief team anticipates that exome sequencing efforts will lead to the identification of genetic variants in the pedigree of identified at-risk populations that alter risk for RHD and will provide knowledge necessary for development of effective vaccines.
Existing scientific literature provides evidence that there is an inheritable component to whether a strep infection turns into rheumatic heart disease when untreated. Finding this genetic link will ultimately help us move toward a lasting solution to the problem. This is accomplished by analyzing the DNA of family blood relations where there are two or more members who have been screened positive for rheumatic heart disease. The DNA is then tested for genetic variations that are shared by those affected with the disease. Another ongoing approach is to compare the DNA of all RHD cases against DNA from subjects without RHD. Both approaches have the potential to identify specific changes in the DNA that impact RHD susceptibility. These findings will provide us with fundamental new knowledge about rheumatic heart disease and will potentially influence preventative protocols.