UTSW Researchers Use Base Editing to Tackle the Most Common Genetic Heart Disease

(from left to right) Andreas Chai and Eric Olson, PhD

Hypertrophic cardiomyopathy (HCM), the most prevalent genetic heart disease, affects more than 0.5% of people in the US. Thickening of the heart muscle associated with HCM causes arrhythmia, heart failure, and sudden cardiac death. The condition often goes undiagnosed, and heart transplant is the only known cure.

Olson’s latest work attempts to level the playing field by employing base editing to correct one of the mutations that causes HCM. Published in Nature Medicine, the proof-of-concept study demonstrates that with a single nucleotide substitution, a subset of HCM patients could potentially be cured of the disease.