In our newest NIH-funded study, we plan to leverage the tissue specimens of precisely phenotyped POST SCD cases to investigate the role of clonal hematopoiesis of indeterminate potential (CHIP), an occult pre-cancerous proliferation of cells in the blood that leads to an increase in cardiovascular disease and overall mortality.

The association between CHIP and SCD and the mechanism by which CHIP might contribute to SCD remain unknown. We are performing targeted sequencing for CHIP in blood and heart samples from our unique cohort of autopsy-confirmed SCDs, and quantitative histologic and molecular phenotyping of heart tissue to determine how CHIP contributes to vulnerable substrate for lethal arrhythmias underlying SCD.