Cardiovascular diseases including primary cardiomyopathies with a genetic origin often leading to heart failure and sudden death. Current clinical management of genetic forms of heart failure are limited due to: (1) the causative gene is often unknown; (2) our limited understanding of the molecular mechanisms; (3) the lack of any evidence for safe and effective preventative treatment. Moreover, the knowledge about genetic contributors to common forms of heart failure is also poorly understood. Given those challenges the main objective is to enhance our understanding of the complex molecular, cellular and genetic mechanisms leading to disease.
We have established a translational research approach as outlined in the figure below consisting of three overlapping pillars: (A) Genetic and Genomics, (B) Mechanistic Analyses, (C) Translation in to Patient Care. Those pillars will be represented by the main goals of our research:
- Discover novel genetic causes of cardiovascular diseases leading to heart failure
- Validate novel genetic findings in biological model systems (in vitro and in vivo) for their potential disease-causing effect and identify disease pathways
- Develop treatment strategies in model systems
- Translate findings on genes into the clinic