Genome Variation in Neurodevelopmental Diseases or Syndromes

Eirik FrengenGroup leader
Eirik Frengen
Group leader

Our aim is to identify and characterize novel molecular mechanisms causing rare neurodevelopmental diseases or syndromes, and obtain knowledge about biological consequences leading to the clinical presentation. Most of the patients are recruited by Professor Petter Strømme (Department of Pediatrics, OUS/UiO), who organizes the clinical aspects of the project.

We utilize High throughput DNA Sequencing approaches (e.g. WES, WGS, RNAseq) to identify disease causing genetic variants in the patients. We have so far detected clinically relevant genetic variants in half of the families analyzed. In about 10% of the patients we identified putative pathogenic variants in genes not yet known to cause human diseases when mutated (“novel disease genes”). National and international collaborators screen the novel disease genes in their patient cohorts, and we characterize the molecular mechanisms in vitro in patient cells and in vivo using animal models (mice, zebrafish, C. elegans).

Research projects

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.


Stormorken syndrome

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. 

Studying a mouse knock-in model expressing the Stormorken syndrome mutation

Sacral anomalies

The studies of genetic defects in sacral anomalies are studied by senior researcher Kristin Eiklid.


Eirik Frengen
Department of Medical Genetics
Tel: 95882233