Award
NIH Reporter #1R01HL184520-01A1
PERM1, a new therapeutic target for PRDM16-associated cardiomyopathy
Recipient
Utah State Higher Education System--University of Utah
Award Amount
$702,042.00
Ceiling
$702,042.00
Awarded
August 12, 2026
Identifier
1R01HL184520-01A1
The award supports research on sex-specific mechanisms in PRDM16-associated cardiomyopathy, aiming to improve outcomes especially for female patients by identifying therapeutic targets.
Description
This project focuses on understanding sex-specific mechanisms in PRDM16-associated cardiomyopathy and exploring therapeutic targets to improve patient outcomes. PRDM16-associated cardiomyopathy manifests in individuals with 1p36 deletion syndrome and patients with de novo mutations in the PRDM16 gene. The research aims to uncover female-specific molecular mechanisms driving PRDM16-associated dilated cardiomyopathy, establish a global registry of PRDM16 variant carriers, generate induced pluripotent stem cells to explore sex-specific disease pathways, and validate the role of PPARGC1 and ERR-regulated PERM1 as therapeutic targets.