Improving the diagnostic pathway in children with suspected mitochondrial disorders

Mitochondria are tiny structures within our cells that provide our bodies with over 90% of the energy we need to live and function. Mitochondrial disorders (MD) occur when this energy pathway is not working properly, so cells can’t create energy efficiently, and start to fail. These conditions are rare and have been associated with over 350 different genes. MitoMDT is a national program aiming to improve the diagnostic pathway for individuals with suspected MD. My research will explore how diagnostic yields can be enhanced using the integration of genomics and multi-omics to identify pathogenic variants in known and novel mitochondrial disease genes.