Genetics of rare congenital brain diseases

Eirik FrengenGroup leader
Eirik Frengen
Group leader

Our main aim is to reveal information about the genetic mechanisms causing congenital brain malformations, and obtain knowledge about the biological consequences leading to the clinical presentation.

In our projects, we perform Whole Exome and Genome Sequencing (WES/WGS) in order to identify potential pathogenic mutations in “novel disease genes” (i.e. genes not yet known to cause human diseases when mutated).

Potential novel disease genes are screened in international patient cohorts. 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.

Research projects

Dissecting the molecular basis of ciliopathies
Molecular characterization of encephalopathies with onset in childhood
The only project not focusing on brain malformations is our work on Stormorken syndrome, which was initiated >20 years ago in collaboration with Prof. Helge Stormorken. We have documented that the mutation STIM1 p.R304W causes this syndrome, and we have established mouse lines expressing the mutated protein: 
Studying mouse knock-in models expressing the Stormorken syndrome mutation


Eirik Frengen
Department of Medical Genetics
Tel: 95882233