Developing a functional assay to evaluate pathogenic variants in one of the most common genetic loci linked to paediatric mitochondrial disease
- Department / Centre
- Biochemistry and Pharmacology
|Dr Ann Frazierfirstname.lastname@example.org|
Summary Our research focuses on disorders of mitochondrial energy generation, which cause a wide range of diseases and affect ~1/5000 individuals. There are no effective treatments and the pathological mechanisms of mitochondrial diseases are not well established.We use a variety of models to investigate mitochondrial diseases, including both mouse and cell culture systems, such as pluripotent stem cells that can be differentiated into cardiac or neuronal lineages to investigate the most commonly affected tissues. Using genomic, molecular and biochemical approaches, our investigations explore cellular and mitochondrial pathways relevant to disease pathogenesis, and investigate therapeutic compounds targeting pathways affected by mitochondrial dysfunction.