Completed Cells, Biochemistry & Physiology Genetics & Molecular Biology

Wellcome Centre for Mitochondrial Research

In plain English

AI plain-English summary

Mitochondrial disease leaves patients’ cells starved of energy, and this centre aims to give every single one of them a shot at a clinical trial. Mitochondria are the tiny power plants inside nearly every human cell. When their DNA goes wrong, the consequences can be devastating: muscle weakness, blindness, heart failure, and early death. The problem is staggeringly complex—the same faulty gene can wreck one organ while leaving another untouched, and doctors still do not understand why. This centre attacks that gap on three fronts: mapping exactly how the disease unfolds in living patients, uncovering the genetic switches that cause some tissues to fail while others survive, and developing new drugs that target the mitochondrial genome directly. If the research succeeds, the immediate change will be in the clinic. Patients who currently face a diagnostic odyssey and no treatment options will instead enter trials for therapies tailored to their specific genetic defect. The work also trains the next generation of mitochondrial scientists, ensuring that progress does not stall when current experts retire. Beyond the clinic, understanding how mitochondria fail in rare disease could illuminate their role in common conditions such as Parkinson’s, diabetes, and ageing—but that remains a longer-term possibility, not a promised outcome.

View original technical description
Our mission is to transform the lives of patients with mitochondrial disease To achieve this mission we will build on progress made since the start of the Centre in May 2012 and combine: Three core scientific research themes • Understanding clinical mitochondrial disease: we will expand our unparalleled cohort of mitochondrial patients through extensive deep phenotyping, identifying key disease mechanisms at a clinical (whole patient) and organ level, and developing models of specific clinical features to enable improved treatment for patients with mitochondrial disease. • Understanding the genetic mechanisms underlying mitochondrial disease: we will elucidate genetic factors responsible for mitochondrial disease, exploring the mechanisms underlying the tissue specificity that characterises clinical disease and delineating the pathways underlying mitochondrial translation. • Prevention and treatment of mitochondrial disease: we will optimise the prevention of mitochondrial disease, developing novel therapies targeted at the mitochondrial genome and identifying new compounds to treat mitochondrial disease. We will ensure that every patient with mitochondrial disease has the opportunity to be involved in a clinical trial. Training the next generation of clinical and basic mitochondrial scientists. Engaging with patients to evolve our research focus and with policy makers to ensure our research findings improves care for patients with mitochondrial disease.

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Researchers

Doug Turnbull (EPMC Awardee)

Related Research

Grants with similar aims, by meaning.

The MRC Centre for Translational Research in Neuromuscular Disease Mitochondrial Disease Patient Cohort (UK)
Discovering and characterising molecules that rescue mitochondrial defects
Medical Research Council Centre for the Neuromuscular diseases: Mitochondrial disease patient cohort study
MitoCluster: an integrated phenotyping and mouse model generation platform for mitochondrial disease and dysfunction
Quality Control of the Mitochondrial Gene Expression System in Health and Disease

Original classification

Wellcome Trust Centre

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