Genetics of rare congenital diseases
Our main aim is to reveal information about the genetic mechanisms causing rare congenital diseases, and obtain knowledge about the biological consequences leading to the clinical presentation.
About the Group
In our projects, we perform Whole Exome and Genome Sequencing (WES/WGS) in order to identify potential pathogenic mutations in “novel disease genes” (i.e. genes not yet known to cause human diseases when mutated). We explore the functional consequences of the mutations by in vitro and in vivo experiments. This approach allows us to gain insight about the etiology of the syndromes and further facilitate building of hypotheses to explain genotype-phenotype correlations.
Even though patients with each of these diseases are individually rare, the total number of patients is significant. Our translational projects aim at revealing unique knowledge about human biology, which is of major importance for the development of future therapy.
- Molecular characterization of severe encephalopathies in childhood
- Dissecting the molecular basis of ciliopathies
- Studying mouse knock-in models expressing the Stormorken syndrome mutation