The goal of my group is to improve the understanding of (neurodevelop)mental disorders and neurogenetic mechanisms shaping human behavior, cognition, and development.
As ‘models’, we use rare genetic variants, in particular copy number variants (CNVs), i.e. regions of the genome either deleted or duplicated. Carriers of certain CNVs are at elevated risk for a wide range of medical and behavioral consequences including brain disorders and some display large macroscopic effects on brain structure. The exact same CNV may confer elevated risk for several different (brain) disorders while reciprocal CNVs (at each end of the dosage response) may be associated with the same disorder. This suggests that brain disorders are highly interlinked. Consequently, through CNV studies, we may disentangle the mechanisms behind interrelated disorders and their influence on disease (both mental and somatic) outcome.
Collaborative efforts are essential due to the low frequency of CNVs (1 in ~ 400 down to 1 in ~ 50,000 or less). We take advantage of global collaborations and novel Norwegian initiatives (such as the Norwegian Mother, Father and Child pregnancy study (MoBa). Internationally, the group coordinates the ENIGMA-CNV working group (https://enigma.ini.usc.edu/ongoing/enigma-cnv/), a part of the Enhancing Imaging Genetics through Meta-Analysis consortium, and, nationally to, we have tight links to the research environment, NORMENT (https://www.med.uio.no/norment/english/) and the K.G. Jebsen Centre for Neurodevelopmental Disorders (www.med.uio.no/klinmed/english/research/centres/kgj-neurodevelopmental-disorders/)). Through the latter, we partake in the recruitment of clinically identified carriers of rare genetic variants to study all scales of the spectrum of CNVs. A recent undertaking is recruitment of individuals with sex chromosome abnormalities for phenotyping and trajectory mapping.
We enjoy fervent, far-out discussions, a good laugh and to work in a collaborative, supportive spirit.
Thus, we welcome enthusiastic, fun additions to the group including fruitful collaborations and motivated master students. We can offer highly cross-disciplinary projects on carriers of CNVs and sex aneuplodies within e.g. brain imaging, psychology and genetics. Please reach out!
The OUS-homepage of the group is here: https://ous-research.no/home/sonderby/home/22600
Foto: Kirsten Sjøwall