Rare Genetic Variants in Neurodevelopment Disorders
Our goal 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.