Genome variation in neurodevelopmental diseases or syndromes
Our aim is to reveal information about the genetic mechanisms causing neurodevelopmental diseases or syndromes, and obtain knowledge about biological consequences leading to the clinical presentation.
In our group, we perform Whole Exome Sequencing (WES) and in order to identify disease causing genetic variants in patients with severe diseases or syndromes. We continue Whole Genome Sequencing (WGS) focusing on studies of non-coding DNA in families where we have not detected clinically relevant WES results. Novel pathogenic mutations are characterized by in vitro experiments in patient cells and in vivo using animal models (C. elegans, zebrafish, mice).
Even though patients with each of these syndromes 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 progressive encephalopathies (PE) in childhood
- Detailed molecular and clinical characterization of patients with neurodevelopmental disabilities and genome aberrations
- Dissecting the molecular basis of ciliopathies
- Studying a mouse knock-in model expressing the Stormorken syndrome mutation
- Studies of genetic defects in sacral anomalies