Dr Helen Tuppen
Senior Research Associate
DNA mutations in human mitochondrial disease and ageing.
My research focuses on three areas:
• Identifying underlying genetic causes for patients with mitochondrial disease and investigating how these mutations contribute to disease. I am particularly interested in homoplasmic mtDNA mutations (mutations affecting all mtDNA molecules) and nuclear DNA mutations.
• Investigating the role of mitochondria in female reproductive ageing. Increasing evidence suggests mitochondrial ageing may underlie oocyte ageing. I am investigating the functional and structural integrity of oocyte mitochondria and their DNA to identify defects that may accumulate with age.
• Understanding disease mechanisms. I am investigating disease progression in mitochondrial disease, developing single cell analytical methods and next generation sequencing.
Funders/Collaborators: Wellcome Trust, Newcastle University and The Lily Foundation