The Centre for Mitochondrial Research in Newcastle is built on our long standing clinical and scientific expertise in Mitochondrial Disease. We are totally committed to providing the best of care for our patients. If we are to develop new strategies for preventing or treating Mitochondrial Disease, it is fundamentally dependent upon very high quality research. Our main research themes are:
Mitochondrial gene expression
Mitochondrial gene expression is a poorly understood but crucial process that is defective in many of our patients. 50-60% of all children with Mitochondrial (mt) Disease do not have a genetic diagnosis and 40% of these children have a generalised defect of mtDNA expression. We believe that to design effective therapies for patients with Mitochondrial Disease it is essential to increase our understanding of the molecular mechanisms and key factors that underpin human mtDNA expression.
Preventing disease transmission
There is currently no curative treatment for patients with mtDNA disease. For many women carrying mtDNA mutations their overriding desire is to have a healthy child. There are a variety of reproductive options available for women with mtDNA mutations including genetic counselling, ovum donation, antenatal diagnosis (by CVS biopsy) and pre-implantation genetic diagnosis (PGD). However for many families these techniques are not appropriate and we have been working on developing techniques to prevent transmission of mtDNA disease.
The Wellcome Centre for Mitochondrial Research at Newcastle University is the research arm of our initiative to help patients with Mitochondrial Disease. Four of the principal investigators of the new centre have major clinical commitments looking after patients with Mitochondrial Disease and this link between the clinical studies and research within the centre is crucial. Our research programmes are focused on addressing specific questions around the neurological involvement in Mitochondrial Disease.
Mitochondria in common disease
There is increasing association of mitochondrial dysfunction with the ageing process and common neurodegenerative diseases that affect a significant proportion of the population. We will exploit recent advances in DNA sequencing to determine the role that mtDNA sequence variation plays in common complex human diseases.