Severe neurological diseases in children
In this project we search for mutations in genes not yet known to cause human diseases when mutated («novel disease genes»). Novel disease gene candidates are screened in international patient cohorts, and functional consequences of the mutations are explored by in vitro and in vivo experiments. This multidisciplinary 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 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.
More than 20 years ago we initiated a collaborative effort with Professor emeritus Helge Stormorken aiming to reveal the mutation causing the syndrome he described in 1985. We have documented that Stormorken syndrome is caused by the STIM1 p.R304W mutation, and established a mouse line expressing this mutation.
The studies of genetic defects in sacral anomalies are studied by senior researcher Kristin Eiklid.