Abstract
Neurodevelopmental disorders (NDD) are disorders which affect learning ability. Since genetic defects in many genes are linked to NDD's, diagnosis and treatment are difficult. Moreover, for the majority of NDD patients, the genetic cause remains unknown. However, there is growing evidence that for different NDDs a common molecular pathway is affected. For example, there is an enrichment of genes involved in chromatin remodelling. Disorders caused by mutations in genes regulating chromatin remodelling are called chromatinopathies. In this project, we want to study five distinct chromatinopathies: Kabuki, Kleefstra, Gabriele-de Vries, Helsmoortel-Van der Aa and a syndromic type of autism caused by mutations in KMT2D, EHMT1, YY1, ADNP and CHD8 respectively. The rationale for studying these five disorders is that the corresponding genes are involved in shared biological processes and that they have overlapping clinical features. We thus hypothesize that mutations in these five genes give rise to unique as well as common downstream effects in gene transcription and translation.
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