Movement disorders are a group of genetic disorders in which there is an excess, or paucity of movement. Many relatively common disorders can fall into this category, including Parkinson disease, dystonia, and hereditary spastic paraplegia. Movement disorders are frequently disabling and often fatal. Gene discovery has been critical to improving our understanding of the underlying disease mechanisms, but routine diagnosis remains expensive and time consuming due to the diversity of genes involved.
Dr Kishore Kumar is evaluating the effectiveness of whole genome sequencing as a diagnostic tool for movement disorders. This research is investigating genomic variations in both the coding, and non-coding regions of the genome. This study will enable gene discovery and drive further laboratory-based research into the biological mechanisms causing movement disorders, potentially leading to new treatments. This work is in collaboration with Professor Carolyn Sue (Kolling Institute).