Our group investigates the pathogenic mechanisms involved in neurogenetic disorders with particular interests in two fields: Mitochondrial disease and movement disorders. Our specific goal is to identify key molecular pathways involved in the pathogenesis of neurological diseases, with a particular focus on mitochondrial function.
We provide diagnostic support for our large tertiary referral clinic for patients with mitochondrial and movement disorders and our research focus is to develop accurate methods of diagnosis, further understanding of how genetic mutations cause neurological disease and discover new therapies to treat these types of disorders.
We use next-generation sequencing methods to discover and identify new gene mutations associated with rare diseases and use patient-derived stem cell models such as induced pluripotential stem cells and olfactory neurosphere cultures, to perform functional genomics and investigate key cellular mechanisms that lead to neurodegeneration.
Clinical studies are aimed at determining the natural history of Mitochondrial disease, identifying factors that can predict disease progression and severity and developing tools to monitor disease progression to enhance the performance of clinical trials.
Neurogenetics Group with Director Carolyn Sue (far right)