Chromosome Rearrangements and Disease
The overall goals of the group are to elucidate the causative genetic defects of human neurodevelopmental disorders (NDD) by using state-of-the art genetics and genomics strategies and to understand the functional relevance of pathogenic variants and the cell protein signaling networks the respective proteins are embedded in. The results will provide insight into normal and disturbed gene functions and into molecular pathways, and they will considerably improve our understanding of the biological and cellular mechanisms underlying normal brain development.
Our group has actively searched for novel NDD genes by systematic mapping of chromosome breakpoints and applying whole exome or whole genome sequencing. Through these activities we have discovered or contributed to the discovery of numerous genes for various forms of NDD (e.g. CDKL5, PQBP1, AUTS2, ARHGEF9, DYRK1A, FOXG1, ZC4H2, CLCN4, CNKSR2, GABRA3, EIF2S3, RLIM, MSL3).
We currently re-investigate those patients and families in which we could not identify the disease-relevant variant in the protein-coding regions of genes or the identified variants in known disease genes have been interpreted as of uncertain clinical significance.
These activities are complemented by in vitro and in vivo studies on previously discovered and newly identified NDD genes and proteins, partly in collaboration with other groups.
