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Review: Precision Medicine Approaches for Genetic Cardiomyopathy: Targeting Phospholamban R14del.

Frederik E DeimanNils BomerPeter van der MeerNiels Grote Beverborg
Published in: Current heart failure reports (2022)
PLN R14del is characterized by several disease hallmarks including calcium dysregulation, metabolic dysfunction, and protein aggregation. The identification of disease-related biological pathways and the effective targeting using several modalities, including gene silencing and signal transduction modulation, may eventually provide novel treatments for genetic heart disease. We propose a workflow on how to approach precision medicine in heart disease. This workflow focuses on deep phenotyping of patient derived material, including in vitro disease modeling. This will allow identification of therapeutic targets and disease modifiers, to be used for the identification of novel biomarkers and the development of precision medicine approaches for genetic cardiomyopathies.
Keyphrases
  • genome wide
  • pulmonary hypertension
  • heart failure
  • oxidative stress
  • cancer therapy
  • dna methylation
  • gene expression
  • drug delivery
  • electronic health record
  • bioinformatics analysis
  • small molecule
  • binding protein