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Mechanisms & Consequences

Mechanisms and Consequences in Neurodevelopmental Disorders

mechanisms & consequencesWe will be using new technologies that can rapidly evaluate clinical datasets for identification of rare copy number variants (CNVs) associated with neurodevelopmental disorders such as autism, autism spectrum disorder, epilepsy, developmental disability and intellectual disability.

This study aims to recognize specific genomic locations of copy number variation, to identify molecular mechanisms of CNV formation and to describe specific physical characteristics (phenotypes) in order to better understand each of the conditions and narrow the search for the responsible genes.