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The Danish 22q11 Research Initiative

The 22q11 deletion as an at-high risk model for neurodevelopmental disorders such as schizophrenia and autism: Uncovering the neurobiological underpinnings.

  • Funded by: Lundbeck Foundation

The Danish 22q11 research initiative was initiated by Professor Thomas Werge from the Institute of Biological Psychiatry (IBP), Skt. Hans, in Roskilde and is part of the iPsych initiative. Patients with the 22q11.2 deletion syndrome are at very high risk of neurodevelopmental disorders. The Danish 22q11 initiative aims to model the multi-dimensional, i.e. cognitive, neuroanatomical, and neurophysiological domains, environmental exposures and family disposition that are predictive of the pathology currently defined by the diagnostic criteria for schizophrenia, autism or ADHD. The chance of developing schizophrenia is estimated to be approximately 30%. The 22q11.2 deletion research at DRCMR investigates whether changes in effective brain connectivity represent a functional marker in individuals prone to schizophrenia and psychosis. Specifically, EEG and fMRI are used to investigate subject’s ability to detect stimulus changes in the auditory domain on a high temporal and spatial scale, an ability that is significantly diminished in schizophrenia patients. At Lundbeck animal studies in 22q11 mice are conducted. The latter provides a translational approach that allows more insight on the neurophysiology underlying 22q11.2 deletion and consequently schizophrenia. Importantly, the translational results between the human EEG and the recordings in mice will lead to a better understanding of the neural mechanisms underlying the development of schizophrenia and psychosis.


22q11 image 

The 22q11.2 project employs electroencephalography (EEG) and functional magnetic resonance imaging (fMRI)
to investigate neurophysiological signatures that have been related to schizophrenia, such as the mismatch negativity. Human carriers of a 22q11 deletion and healthy controls without a deletion are assessed with EEG and fMRI at the DRCMR, while 22q11 deletion mice and their controls are assessed with EEG at Lundbeck. The mice studies allow detailed mapping of deficits across multiple levels from altered behavior, anatomical and physiological changes to molecular disturbances and thus can inform human study results.



Associated Publications

Larsen, K. M., Mørup, M., Birknow, M. R., Fischer, E., Olsen, L., Didriksen, M., Baaré, W. F. C., Werge, T. M., Garrido, M. I. & Siebner, H. R. (2019) Individuals with 22q11.2 deletion syndrome show intact prediction but reduced adaptation in responses to repeated sounds: Evidence from Bayesian mapping. NeuroImage. Clinical. 22, p. 101721, 101721. doi: 10.1016/j.nicl.2019.101721

Larsen KM, Pellegrino G, Birknow MR, Kjaer TN, Baare WFC, Didriksen M, Olsen L, Werge T, Morup M, Siebner HR. (2018). 22q11.2 Deletion Syndrome Is Associated With Impaired Auditory Steady-State Gamma Response. Schizophr Bull. 44(2), 388-397.

Larsen KM, Morup M, Birknow MR, Fischer E, Hulme O, Vangkilde A, Schmock H, Baare WFC, Didriksen M, Olsen L, Werge T, Siebner HR, Garrido MI. (2018). Altered auditory processing and effective connectivity in 22q11.2 deletion syndrome. Schizophr Res.

Vangkilde A, Jepsen JR, Schmock H, Olesen C, Arnarsdottir S, Baare WF, Plessen KJ, Didriksen M, Siebner HR, Werge T, Olsen L. (2016). Associations between social cognition, skills, and function and subclinical negative and positive symptoms in 22q11.2 deletion syndrome. J Neurodev Disord. 8, 42.

Schmock H, Vangkilde A, Larsen KM, Fischer E, Birknow MR, Jepsen JR, Olesen C, Skovby F, Plessen KJ, Morup M, Hulme O, Baare WF, Didriksen M, Siebner HR, Werge T, Olsen L. (2015). The Danish 22q11 research initiative. BMC Psychiatry. 15, 220.

DRCMR Members

Hartwig R. Siebner

William Frans Christiaan Baaré

Christian Bauer

Oliver Hulme

External Members

Institute for Biological Psychiatry 

Prof. Thomas Werge (Project PI)

Line Olsen (PhD)

Henriette Schmock (MD, PhD Student)

Anders Vangkilde (MD, PhD Student)

Therapeutic Biology Lead for Schyzophrenia and Psychosis, H. Lundbeck A/S 

Director Michael Didriksen

Michelle Rosgaard Birknow (PhD Student)

DTU Compute, Department of Applied Mathematics and Computer Science

Ass. Prof. Morten Mørup