Genetic architecture of complex genetic disorders

Understanding the genetic architecture of disease is imperative for the success of personalized medicine. This involves investigating the entire spectrum of rare and common genetic variants. It forms the basis for exploring the underlying molecular mechanisms and environmental factors triggering the disease in susceptible individuals. We strive to achieve comprehensive genetic characterization and disease mechanistic understanding enabling improved health outcomes via enhanced prediction, prevention, diagnosis, and personalized treatment.

We identify genetic variants for neurological disorders with a focus on movement and sleep disorders using large scale next generation sequencing approaches. We also perform large scale analysis of transcriptomes, metabolomes and other omic layers. Examples of recent achievements are the identification of the first ever genes for restless legs syndrome (RLS) and novel genes for dystonia, which challenged previous pathophysiological concepts and opened up previously unexplored avenues to study these diseases.

Overall, our projects deliver major contributions to the general paradigm shift in human medicine from “diagnose and treat” to “predict and prevent”.