NIH R01 · 2024
Calcium Release Channel Deficiency Syndrome
PROJECT SUMMARY Potentially lethal cardiac channelopathies associated with pathogenic variants in the RYR2-encoded cardiac ryanodine receptor type 2 (RyR2)/calcium release channel (CRC) are the pathogenic basis for a significant portion of autopsy-negative sudden unexplained death in the young (SUDY). RYR2 gain- of-function (GOF) pathogenic variants account for 60% of autosomal dominant catecholaminergic polymorphic ventricular tachycardia (CPVT1), a potentially lethal heritable arrhythmia syndrome that classically manifests as exercise-induced syncope, sudden cardiac arrest (SCA), or sudden cardiac death (SCD). In 2020, we discovered a novel RYR2 loss-of-function (LOF) mechanism that we…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.