Laboratory Based Mitochondrial Research
Identifying and Evaluating Biomarkers for the Diagnosis and Monitoring Patients
Currently a range of different approaches (Proteomics, Metabolomics, Genomics) are being used to identify biomarkers that may help in achieving earlier diagnoses of patients with mitochondrial disorders. Furthermore, it is hoped that such biomarkers might be used in the future to evaluate the efficacy of novel therapeutic strategies.
Metabolic Consequences of Impaired Mitochondrial Function
Using a range of cellular models, the downstream effects of compromised mitochondrial function upon other metabolic pathways are being evaluated. This includes effects upon Lysosomal function and dopamine metabolism. A key aim of this work is to identify novel mechanisms that could represent additional therapeutic targets.
Clinical Based Mitochondrial Research
Our research interests span basic scientific discovery to translational research projects. One of our primary aims is confirming the genetic diagnosis in patients with clinical, pathological and/or biochemical evidence of mitochondrial disease. Next generation sequencing techniques are often used to identify novel candidate nuclear genes. The pathogenic basis of mutations detected is subsequently characterized using functional studies with the use of patient tissue and fibroblasts. We are undertaking numerous clinical studies in patients with genetically confirmed mitochondrial disease with a view to identifying previously unreported symptoms to enable more patient focused management plans and to further understand the pathophysiological consequences of the disease. Furthermore, we are participating in experimental medicine and early phase clinical trials for mitochondrial patients.