NIH R01 · 2024
PROJECT SUMMARY / ABSTRACT Contractile force in the heart is generated by densely packed subcellular structures known as sarcomeres. Mutations in sarcomeric genes have been repeatedly linked to potentially lethal conditions known as cardiomyopathies, including hypertrophic (HCM) and dilated (DCM) forms. Optimal clinical management of HCM/DCM requires identification of at-risk individuals before they experience symptoms. Genetic testing can be useful, but results are not always definitive enough to support clinical decision making. This is because genetic variants found in patients are often unique to their family. These so-called variants of unknown significance (VUS) could be pathogenic or…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.