Cardiovascular Genetics


Head of the Group

Prof. Dr. Silke Sperling


The Sperling Lab focuses on understanding the molecular basis of cardiac dysfunction and cardiovascular disorders, in particular congenital heart malformations. Our team combines molecular biology, bioinformatics and clinical knowledge in systems biology approaches to study cardiac development and muscle maturation in human and mice.

We investigate disease-associated genes and epigenetic modulators in the genomic, transcriptomic and proteomic context. We have identified the transcription factor CITED2 as a human disease gene and characterized the chromatin factor DPF3, the first protein shown to bind histone acetylation and methylation marks via its PHD domain.

Moreover, we study transcription networks underlying heart development and showed the interplay between multiple cardiac transcription factors and histone modifications. Finally, we demonstrated the polygenic origin of Tetralogy of Fallot by introducing a novel computational approach to identify disease-related genes.

Our long-term goal is to combine knowledge of molecular etiologies and mechanisms to improve preventive and therapeutic opportunities for patients with congenital heart diseases.