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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, genome aberrations are studied in detail in patients with severe diseases or syndromes. Thorough clinical examination is performed by a team of geneticists, neurologists, pediatricians and other specialists. This multidisciplinary approach allows us to gain insight about the etiology of these 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.

About the Group

The research group is a part of the Research section at the Department of Medical Genetics, Oslo University Hospital (in Norwegian).It currently consists of 1 senior researcher, 1 senior engineer, 3 PhD students, 1 research medical student (Forskerlinjen), 2 MSc students, 3 research technicians and 1 MD/researcher.

Main projects

Published Apr. 10, 2012 09:44 AM - Last modified Nov. 2, 2016 11:04 AM