NIH R01 · 2024
PROJECT SUMMARY / ABSTRACT Mutations in the Transthyretin (TTR) gene can lead to deposition of abnormal amyloid fibrils in the myocardium, resulting in hereditary transthyretin amyloid cardiomyopathy (hATTR-CM) and leading to heart failure. Targeted therapies for hATTR-CM have recently been developed and have shown to improve mortality and hospitalization. Recently, we led a study (Journal of American Medical Association, Dec 2019) that showed that the TTR V122I mutation, commonly observed in racial/ethnic minorities (4% in African Americans (AAs) and 1% in Hispanic Americans (HAs)), confers two-fold increased risk of heart failure. Despite this strong effect, only 11% of V122I carriers…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.