Birmingham researchers join multi-million pound collaboration to understand fatal genetic diseases

The new MRC Centre of Research Excellence in Mitochondrial Genome Therapeutics will be led by the University of Cambridge and brings together leading experts from across disciplines, to define how mutations in mitochondrial DNA (mtDNA) cause disease and translate that knowledge into therapies. These experts include Professor Daniel Tennant and Dr Sofia Ahola from the School of Medical Sciences, along with Professor Hansong Ma from the School of Biosciences at the University of Birmingham.

Currently, no cure exists for mitochondrial diseases, a group of genetic disorders that affect around 1 in 5000 people, leaving patients and their families facing significant unmet medical needs.

Beyond inherited conditions, mtDNA mutations are increasingly linked to neurodegeneration, metabolic disease, cardiovascular failure and age-related deterioration. In affected individuals, mitochondrial dysfunction can contribute to severe disability, progressive decline and premature death.

“The significant impact families affected by mitochondrial disease face demonstrates the need for more research in this area. We are delighted to join the new MRC CoRE and work together to provide pioneering approaches to understanding and treating diseases caused by mutations in the mitochondrial genome. The University of Birmingham brings unique models of mitochondrial disease, expertise in mitochondrial biology and world-leading metabolic analysis platforms to this exciting and innovative research programme. Together, we form a collaborative enterprise that we hope will bring much-needed treatments to patients and their families,” explains Daniel Tennant, Professor of Biochemistry from the Department of Metabolism and System Science in the College of Medicine and Health, University of Birmingham.

Project lead Professor Michal Minczuk of the University of Cambridge comments on the wider collaboration: “We will be building a long-term UK research platform with the scale, expertise and infrastructure needed to position the UK as a global leader in mitochondrial genome therapeutics.

“Our goal is to create the scientific foundations that will enable entirely new therapeutic strategies and offer renewed hope to patients and families affected by mitochondrial disease."

The MRC CoRE will harness emerging technologies to engineer the mitochondrial genome delivering advanced models of prevalent pathogenic mtDNA mutations.

In this major collaboration, the University of Birmingham joins University of Cambridge, University of Manchester, Heidelberg University and the University of Queensland as well as the Imagine Institute in Paris and charities including leading UK charity the Lily Foundation and industry worldwide. The Lily Foundation’s involvement will ensure that the priorities of families with lived experience have chance to shape the research going forwards.

Dr Ceri Williams, Executive Director of Challenge Led Themes at MRC, said: “The UK has been at the helm of mitochondrial science, having led on the development of mitochondrial replacement therapy which prevents the inheritance of mtDNA mutations.

“We are delighted to announce this new MRC CoRE, which builds on these foundations to bring together expertise from around the world and across sectors to make real progress towards understanding the root causes of mtDNA mutations.

“Taking an interdisciplinary approach to tackle these challenges has the potential to radically transform health research in this field, improving prevention, detection and treatment, boosting outcomes for patients and protecting families affected by the disease.”