Dr Helen Tuppen

Senior Research Associate


Research Focus

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