Genetic changes play a key role in the development of diseases as well as human evolutionary and adaptation. While so-called nonsynonymous mutations - changes that lead to an amino acid substitution in the protein - have been extensively studied, the significance of synonymous mutations has long been underestimated. In these mutations, the amino acid sequence remains unchanged, yet they can have profound functional effects. Recent studies increasingly show that synonymous mutations can influence RNA splicing or mRNA stability and thus can play a crucial role in regulating gene functions.
Our research group therefore aims to systematically investigate the functional consequences of synonymous genetic variants. We examine both their role in monogenic diseases and their significance for evolutionary adaptation processes in humans.
To address these questions, we combine experimental and computational approaches, including:
- bioinformatic analyses to identify functionally relevant variants
- CRISPR/Cas genome editing
- stem cell models (iPSCs) and targeted differentiation
- DNA and RNA sequencing as well as splicing assays
- functional analyses at the molecular and cellular level
As a young research group, we are always looking for motivated students. We welcome inquiries regarding internships, theses, and doctoral projects.
