Identification and functional characterization of novel genetic mutations causing dilated cardiomyopathy in patients of Kazakhstan

Project: CRP

Project Details

Grant Program

Collaborative Research Program 2024-2026

Project Description

The main goals of this project are to define novel mutations in genes associated with DCM in patients of Kazakhstan by performing a whole genome sequencing and bioinformatic analysis (Aim 1), to establish hiPSCs derived cardiomyocites model to perform functional studies and study the underlying mechanisms how these novel mutations alter cardiomyocyte physiology and contribute to a DCM disease development (Aim 2), to define a role of mTOR signaling in DCM induced by novel mutations. (Aim 3).
Effective start/end date1/1/2412/31/26


  • dilated cardiomyopathy (DCM)
  • mutation
  • Human-induced pluripotent stem cell-derived cardiomyocytes (hiPS-CMs)
  • functional studies
  • Next Generation Sequencing
  • Mammalian target of rapamycin (mTOR)
  • Bioinformatics
  • Kazakhstani patients with cardiomyopathy
  • cardiology


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