Dystonia

Dystonia is a common movement disorder characterized by involuntary twisting postures and repetitive movements. By using next-generation sequencing technologies, we aim to uncover the genetic factors contributing to the development of dystonia.

In 2015, we identified pathogenic mutations in the collagen VI gene COL6A3 as the underlying cause of autosomal-recessively inherited early-onset dystonia (DYT27). By implicating the brain extracellular matrix in the pathogenesis of dystonia, the discovery of mutant collagen VI has provided a completely new territory for understanding and treating the disease. Currently, we are applying cellular and animal models to gain insight into the functional consequences of COL6A3 mutations and to identify molecular targets for the development of a highly specific therapy. Moreover, we are conducting large-scale whole-exome and whole-genome analyses to discover further novel genes and illuminate the genetic landscape of this debilitating disorder.