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UK funding (716 822 £) : The MRC Centre for Translational Research in Neuromuscular Disease Mitochondrial Disease Patient Cohort (UK) Ukri12/03/2009 UK Research and Innovation, Royaume Uni
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The MRC Centre for Translational Research in Neuromuscular Disease Mitochondrial Disease Patient Cohort (UK)
| Abstract | Mitochondria are found in every cell in the body and function like tiny batteries, converting energy locked in foodstuffs into a form that can be used easily by the cell. These tiny batteries contain their own genetic information (mtDNA) that is passed from mother to child. This genetic information is a blueprint for parts of the enzymes crucial for the energy conversion process. Genes stored in the nucleus are also important for normal mitochondrial function and disruption (misspelling or omissions in the genetic code) of either mtDNA or nuclear DNA (nDNA) can cause the batteries to fail, resulting in mitochondrial disease. This problem appears to affect at least 1 in 6500 people in the UK and commonly leads to symptoms of fatigue, weakness, unsteadiness, swallowing difficulties, stroke-like episodes, seizures, acidosis and heart disease. Recognition of mitochondrial disease as a significant clinical problem is relatively recent and many of the different forms of the disease (virtually any body organ can be affected) are still being characterized. At present no cure is available and patients? symptoms are treated with conventional medicines that have not been assessed in patients with mitochondrial disease. We plan to define a cohort of 1500 patients, (adults and children), in whom mitochondrial disease has been identified on both clinical and genetic grounds. Our aims in developing this cohort are to translate improvements in our understanding of the science of mitochondrial disease into direct health benefits for patients. We also want to further our understanding of mitochondrial disease mechanisms and transmission and to evaluate (and optimise) the treatment of complications such as stroke, seizures, diabetes, poor growth and heart disease in patients with mitochondrial disease. The cohort will also be a rapidly accessible resource for assessing novel clinical interventions such as drugs targeted to mitochondria and exercise therapy. The cohort will be managed through The MRC Centre for Translational Research in Neuromuscular Disease and transferred to the NHS at the end of the period of funding. Data collected will be managed and stored responsibly and patient care will be unaffected by their decision to enrol in the cohort or not. |
| Category | Research Grant |
| Reference | RCS G0800674 |
| Status | Closed |
| Funded period start | 12/03/2009 |
| Funded period end | 30/08/2015 |
| Funded value | £716 822,00 |
| Source | https://gtr.ukri.org/projects?ref=G0800674 |
Participating Organisations
| Newcastle University | |
| Harvard University | |
| University College London | |
| University of Edinburgh | |
| University of Oregon | |
| University of Texas at San Antonio | |
| Reneo Pharmaceuticals, Inc | |
| Medical Research Council | |
| King's College London |
Cette annonce se réfère à une date antérieure et ne reflète pas nécessairement l’état actuel. L’état actuel est présenté à la page suivante : University OF Newcastle Upon Tyne CHARITY, Newcastle upon Tyne, Royaume Uni.
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