Genome variation in neurodevelopmental diseases

Eirik Frengen
Group leader

Our aim is to reveal information about the genetic mechanisms causing rare diseases, and obtain knowledge about biological consequences leading to the clinical presentation.

In our group, we perform Whole Exome Sequencing (WES) in order to identify disease causing genetic variants in patients with severe diseases. We continue with Whole Genome Sequencing (WGS) in families where we have not detected clinically relevant WES results. WGS allows detection of exonic, intronic and intergenic variants as well as structural variants such as translocations and inversions.

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.

About the Group

The research group is a part of the Research section at the Department of Medical Genetics, Oslo University Hospital (OUS).

One senior engineer, 1 research technician, 3 PhD students, 1 research medical student (Forskerlinjen) and 1 MSc-student are involved in the projects.

The sacral anomalies are studied by Kristin Eiklid (senior researcher) and one technician.