PhD defence Yelyzaveta Snihirova

Keywords: Copy number variants, Environmental factors, 22q11 deletion syndrome, Cognition 

"Same Copy, Different Story: Environmental Modifiers in CNV Carriers"

This thesis investigates why people who carry the same genetic change can show very different outcomes. It focuses on copy number variants (CNVs) – small sections of DNA that are deleted or duplicated, which increase the risk for conditions such as intellectual disability and schizophrenia. By analysing large genetic and environmental datasets from both the general population and clinical cohorts, this research examines how environmental factors such as family background, stress, and education shape cognition and well-being in CNV carriers. The results show that the environment plays a key role in how genetic risks manifest and that both genetic and environmental information are needed to understand individual differences. This work highlights the importance of personalised, context-aware approaches in genetic research and clinical care.

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