Reading between the genes: Clinical and mechanistic insights into epigenetic-related neurodevelopmental disorders

Disorders of the epigenetic machinery represent one of the most affected pathways in
neurodevelopmental disorders (NDDs). However, it remains unclear which specific genes
within this large group contribute to NDDs and what roles these genes play during
brain development. The aim of this thesis is to understand the role of several epigenetic
regulators (transcription regulators, histone modifiers and chromatin remodelers) in
neurodevelopmental disorders. This involves a combination of approaches: 1) identifying
and delineating neurological phenotypes and genotypes of several epigenetic genes
(transcription regulators, histone modifiers and chromatin remodelers) implicated in
neurodevelopmental disorders; 2) establishing DNA methylation profiles associated
with these clinical relevant epigenetic genes allowing improved diagnosis an functional
studies; 3) performing functional characterization and drug tests using human pluripotent
stem cell-derived neural stem cells, induced neurons, and brain organoids.