Complex development disorders II - Deletion and duplication syndrome 22q11.2

The strong correlation between a clearly defined genotype and the increased risk of developing neuropsychiatric morbidity across the lifespan renders deletion syndrome and duplication syndrome 22q11.2 (DS22q11.2) a “natural model” for the neurodevelopmental mechanisms in psychiatric pathogenesis.

Research objective

Multimodal investigations of the phenotype of this patient group will not only help find new strategies in treatment of DS22q11.2, but also generate new insight into neurodevelopmental mechanisms in psychiatric disease not associated with a syndrome.

Main research topics

Our research is in close cooperation with our specialized outpatient service ZEDE22q11.2 and the self-help association KiDS22q11.

Key aspects are: 

• Extensive clinical phenotyping and survey of therapeutic demands in DS22q11.2 
• Molecular characterization of the type of deletion/duplication and investigation of the impact of epigenetic mechanisms on the neuropsychiatric phenotype 
• Characterization of the cellular phenotype in stem cell based neuronal and cardiovascular models
• Investigation of fear conditioning and fear generalization in the development of anxiety disorder in DS22q11.2
• Characterization of social cognition and social stress in DS22q11.2
• Investigation of putative biomarkers