Researching mitochondrial diseases

Investment in study of mitochondrial diseases

Mitochondrial diseases are rare genetic disorders that affect around one in 5,000 people. Caused by mutations in the mitochondrial genome, there is currently no cure for these diseases, and genetic mutations are frequently associated with neurodegeneration, metabolic disease, cardiovascular failure and age-related deterioration, in addition to inherited conditions.

The Medical Research Council (MRC) has just invested £50 million in a world-class research centre which will bring together different scientific disciplines to understand how mitochondrial mutations cause disease and use this understanding to develop new therapies.
 

New centre of research excellence

The new MRC Centre of Research Excellence (CoRE) in Mitochondrial Genome Therapeutics brings together leading experts from across disciplines to define how mutations in mitochondrial DNA (mtDNA) cause disease.

They will then translate that knowledge into therapies.
 

Better understanding of mitochondrial diseases

No cure currently exists for mitochondrial diseases, a group of genetic disorders that affect around one in 5,000 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
• age-related deterioration

In affected individuals, mitochondrial dysfunction can contribute to severe disability, progressive decline and premature death.
 

Project lead Professor Michal Minczuk of the University of Cambridge said:

The MRC CoRE will provide pioneering approaches to understanding and treating diseases caused by mutations in the mitochondrial genome.

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.

Collaboration on emerging technologies

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

Led by the University of Cambridge, it will partner with other centres of scientific excellence:

• University of Birmingham
• The University of Manchester
• Heidelberg University
• University of Queensland
• Imagine Institute in Paris

It will also team up with leading charities including the Lily Foundation and industry worldwide.
 

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.

Liz Curtis, Chief Executive Officer and founder the Lily Foundation, said:

We’re proud to be a named partner in this initiative, an ambitious and collaborative project that has the potential to transform our understanding of mitochondrial disease.

By bringing together world-leading expertise and embedding patient perspectives from the outset, this programme reflects exactly the kind of strategic, forward-looking research we want to support.

Our role as a patient charity partner is to help ensure that the priorities of families shape the research, while also investing directly into the next generation of scientists who will drive progress towards future treatments.

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