Genome Variation in Neurodevelopmental Diseases or Syndromes

Eirik FrengenGroup leader
Eirik Frengen
Group leader

Our aim is to reveal information about the genetic mechanisms causing rare neurodevelopmental diseases or syndromes, 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.

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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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