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Updated: Jan 31, 2026

Evaluation of Cardiac Contractility Modulation Therapy in 2D Human Stem Cell-Derived Cardiomyocytes
Published on: December 16, 2022
Splice modulating therapies for human disease
Pietro Spitali1, Annemieke Aartsma-Rus
1Department of Human Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands.
Abstract:
Dysregulation of splicing and alternative splicing underlies many genetic and acquired diseases. We present an overview of recent strategies and successes in modulating splicing therapeutically in clinical and preclinical contexts. Effective approaches include restoring open reading frames, influencing alternative splicing, and inducing exon inclusion to generate beneficial proteins and remove deleterious ones.
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