Alexandra Dainis

This paper demonstrates that allele-specific RNAi therapy reduces disease-causing mutations in a mouse model of restrictive cardiomyopathy, improving cardiac function and reducing pathological markers.

This study compares two allele-specific silencing strategies in a human model of hypertrophic cardiomyopathy, finding that reducing both alleles improves contractility more than targeting only the disease allele.

The paper uses targeted long-read RNA sequencing to identify transcriptional diversity caused by a splice-site variant in MYBPC3 associated with hypertrophic cardiomyopathy.