Genome variation in neurodevelopmental diseases or syndromes
Our aim is to reveal information about the genetic mechanisms causing rare 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.
We collaborate closely with Professor Petter Strømme (Department of Pediatrics, OUS/UiO) and other specialists who perform thorough clinical examination and follow up the patients. When we detect mutations in genes not yet known to cause human diseases when mutated (novel disease genes), national and international collaborators screen these genes in their patient cohorts.
Novel pathogenic mutations are characterized by in vitro experiments in patient cells and in vivo using animal models (C. elegans, zebrafish, mice). This work has so far led to the identification of seven novel disease entities, two of which were recently published (Barøy et al., Hum Mol Genet. 24(20):5845-54, 2015, Gabriele et al., Am J Hum Genet. 100(6):907-925, 2017).
This multidisciplinary approach allows us to gain insight about the etiology of these syndromes and further facilitate building of hypotheses to explain genotype-phenotype correlations.
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.