New strategies for interventionThis research group includes research that identificates genes that are disrupted in neurodevelopmental disorders. It also studies mechanisms of disease, epigenetic mechanisms and gene regulatory pathways, and develops therapeutic interventions for Kleefstra syndrome and Myotonic Dystrophy. read more (DCMN)
Some discoveries are found below.
Identification of novel disease genes for human disorders.
IdentificationIdentification of many (>100) novel “disease genes” for human disorders. Prominent examples of disorders explained by Hans's research include EEC syndrome (TP63), Robinow syndrome (ROR2), Feingold syndrome (MYCN), Kleefstra syndrome (EHMT1), Walker-Warburg syndrome (Dystroglycanopathy genes), Möbius syndrome, and many genes for Intellectual Disability (ID).
Leading in highlighting the importance of epigenetic regulator genes in the occurrence of neurodevelopmental disorders.
Epigenetic regulator genesThe notion that ID genes converge to common biological pathways, which formed the basis of his inaugural lecture “Networks in the Brain”. Hans was one of the first to highlight the importance of epigenetic regulator genes in the occurrence of intellectual disability, autism, and other neurodevelopmental disorders.
We have set up a pipeline for generating and functional analysis of patient-derived neural cell lineages.
PipelineWe have set up a pipeline for generating and functional analysis of patient-derived neural cell lineages. Proof-of-concept was established by establishing excitatory neurons, starting from fibroblasts from patients with Kleefstra syndrome caused by mutation of the EHMT1 gene. These patient-derived neurons exhibit synaptic defects that mimic those of corresponding mouse models. In addition, culturing of these neurons on multi-electrode arrays dishes revealed gene-specific neural network anomalies. These aberrant network activities are currently used to screen chemical compound libraries to identify drugs can restore the defect, which has already revealed potential lead compounds for further inverstigation in animal models.