MRC Centre for Neuromuscular Diseases in Children and Adults

英国有很多人患有影响肌肉和肌肉神经的疾病。这些疾病中有许多是遗传性的，可能在年轻时发展，造成严重残疾和过早死亡。一个众所周知的例子是杜氏肌营养不良症，但也有许多其他疾病影响肌肉和神经，造成很多残疾。人们对这些疾病进行了大量研究，并且在了解分子和遗传原因方面取得了进展。不幸的是，这并没有转化为有益于患者的新疗法。这些发现尚未使患者受益的原因有很多。在这项研究计划中，我们希望继续做出重要的分子发现，但我们也希望解决将分子发现转化为患者治疗的问题。我们将通过开发更好的方法来评估动物模型和使用新技术（如MRI）的患者。我们将组织更好的系统进行临床试验，我们将建立更好的系统，允许科学家在征得患者同意的情况下对患者样本进行研究，我们将建立更好的方法，在这一重要领域培训更多的新研究人员。我们相信，这种拥有一个单一中心的综合方法，将分子发现直接用于患者的临床试验，将是帮助这些致残性疾病患者的一个重大进步。

A large number of people in the UK have diseases which affect their muscles and the nerves supplying muscles. Many of these disease are genetic and may develop at a young age causing severe disabilty and early death. A well known example is Duchenne muscular dystrophy but there are many other diseses affecting muscle an nerves that cause a lot of disability. There has been much research into these conditions and advances have been made in understanding the molecular and genetic causes. Unfortunatley this has not translated into new treatments that benefit patients. There are a number of reasons why these discoveries have not benefited patients yet. In this research programme we want to continue making important molecular discoveries but we also want to address this problem of translating molecular discoveries into treatment for patients. We will do this by developing better ways of assessing both animal models and patients using new techniques such as MRI. We will organise better systems for doing clnical trials, we will establish better systems to allow scientists to do research on patient samples with their consent and we will establish better ways of training more new researchers in this important area. We believe that this combined approach of having a single centre that encompasess molecular discovery right through to clinical trials in the patient will be a big advance for helping patients with these disabling diseases.