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Strength of patient cohorts and biobanks for cardiomyopathy research

R A de Boer1, L L A M Nijenkamp2, H H W Silljé1

  • 1Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
|August 12, 2020
PubMed

Insights

Genetic heart diseases, often caused by sarcomere protein gene variants, are being studied by the DOSIS consortium. Their research focuses on secondary factors influencing cardiomyopathy development and progression, aiming for clinical applications.

Area of Science:

  • Cardiovascular Research
  • Genetics
  • Molecular Biology

Background:

  • The Netherlands Heart Foundation funded the CVON initiative in 2011 to foster research collaboration.
  • Genetic heart diseases frequently stem from pathogenic variants in sarcomere protein genes.
  • The DOSIS consortium, established in 2014, investigates secondary disease factors in cardiomyopathies.

Purpose of the Study:

  • To highlight recent findings from the DOSIS consortium and collaborators.
  • To explore factors contributing to the onset and progression of inherited cardiomyopathies.
  • To identify potential clinical applications for research observations.

Main Methods:

  • Consortium-based research involving clinical and preclinical investigators.
  • Focus on genetic underpinnings of heart disease, specifically sarcomere protein genes.
  • Investigation of secondary disease mechanisms in cardiomyopathy.

Main Results:

  • Recent observations from the DOSIS consortium are presented.
  • Insights into the determinants of susceptibility in inherited cardiomyopathy.
  • Potential therapeutic approaches are being explored.

Conclusions:

  • The consortium's work on genetic heart diseases is advancing.
  • Understanding secondary hits is crucial for cardiomyopathy progression.
  • Findings may translate to improved clinical practice for patients.

Keywords:
CardiomyopathiesGene variantsPatient cohorts

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