Severe neurological diseases in children
In this project we search for mutations in genes not yet known to cause human diseases when mutated («novel disease genes»). Novel disease gene candidates are screened in international patient cohorts, and functional consequences of the mutations are explored by in vitro and in vivo experiments. This multidisciplinary approach allows us to gain insight about the etiology of the syndromes and further facilitate building of hypotheses to explain genotype-phenotype correlations.
Even though patients with each of these syndromes are individually rare, the total number of patients is significant. Our translational projects aim at revealing unique knowledge about human biology, which is of major importance for the development of future therapy.
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