Our focus is on the clinical, molecular and functional characterization of Neurodevelopmental Disorders (NDDs) and other rare diseases. NDDs are clinically and genetically extremely heterogeneous with, so far, pathogenic variants in more than 1.500 genes identified. Though NDDs affect 2-3% of the western population, each disease is very rare. Limited understanding of both the underlying pathomechanisms as well as clinical spectra and courses hinder prognosis, proper medical care and development of therapeutic options.
In collaboration with the Clinical Genomics Lab (www.cgl.insel.ch) we are utilizing modern sequencing technologies to identify disease associated genes and variants. For the clinical and genetic characterization of novel, genetic diseases as well as for the delineation of genotype-phenotype correlations we closely collaborate with numerous national and international colleagues.
To better understand NDD pathomechanisms, to characterize molecular networks and to possibly develop therapeutic approaches, we utilize a spectrum of molecular methods and model systems.
The fruitfly (Drosophila melanogaster) is a suitable model to investigate the effect of manipulation of (candidate) genes on nervous system development and function and on behavior. It can also be used to investigate genetic interactions between different genes/proteins in vivo or to screen substances.
Additionally, we are using CRISPR/CAS9 based technology in cell-based models such as neural precursor cells or neurons differentiated from induced pluripotent stem cells (iPSCs) to investigate the effects of genetic variants on the development and function of human neuronal cells.