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.

Norwegian version of this page

Genome variation in neurodevelopmental diseases or syndromes

Our aim is to reveal information about the genetic mechanisms causing 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. Novel pathogenic mutations are characterized by in vitro experiments in patient cells and in vivo using animal models (C. elegans, zebrafish, mice).

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.

About the Group

The research group is a part of the Research section at the Department of Medical Genetics, Oslo University Hospital . Read more about our research on ous-research.no.

Published Apr. 10, 2012 9:44 AM - Last modified Mar. 11, 2019 9:31 AM

 
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