Novel mechanisms of genome instability in the failing heart (D02)

• Subject Area: Human Genetics
• Term: from 2016 to 2024
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 193793266

In D02, we will use exome/genome sequencing to identify and functionally characterize novel genes in inherited cardiomyopathies, especially with respect to genomic and structural alterations in cardiomyocytes. We will use an innovative combination of NGS-based approaches in single cells, including genome analysis, deep mtDNA sequencing, long-read telomere investigations, and ultra-deep cardio-gene testing on myocardial biopsies of patients with aortic stenosis. We aim to determine novel mechanisms of genome instability and genome variants predicting the phenotypic outcome in patients with different subtypes of aortic stenosis and varying degrees of heart failure. In addition, together with D01 we will correlate reverse remodeling data with genome instability after catheter-based aortic valve implantation.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1002: Modulatory Units in Heart Failure
• Applicant Institution: Georg-August-Universität Göttingen
• Project Head: Professor Dr. Bernd Wollnik