CORDIS Project
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This research focuses on understanding the genetic basis of intellectual disability by investigating how genetic changes in regulatory elements affect neurodevelopment. It employs advanced techniques to model the impact of these changes on gene expression and neuronal function.
Intellectual disability (ID) is a neurodevelopmental disorder with a strong genetic component.
For many patients the genetic cause is yet unknown as no protein-damaging mutations can be identified.
To accurately predict the risk for ID from a person’s complete DNA sequence, it is essential to know how and when genetic perturbation of a gene regulatory element causes abnormal neurodevelopment.
The knowledge and statistical methodology to do so are currently lacking.Recently, the ENCODE and Roadma…
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