CORDIS Project
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This project investigates the genetic causes of mental retardation and related disorders by focusing on de novo mutations in patients. Using advanced whole genome sequencing techniques, it aims to identify genetic variations and establish guidelines for understanding their impact on health.
Mental retardation, like most common neurodevelopmental and psychiatric diseases, shows a strong genetic component, but these underlying genetic causes remain largely unknown.
For a long time it was hypothesized that these kind of common diseases are mainly caused by common inherited genetic variants with reduced penetrance.
In contrast to this common variant-common disease hypothesis, I here hypothesize that a large proportion of this so-called “missing heritability” for conditions such as ment…
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