ICF: mTOR Pathway Diseases node

这个应用程序是针对英国罕见病研究平台的“mTOR路径疾病”节点。-什么是mTOR途径？为什么它很重要？MTOR通路是我们细胞中的一组分子，它们感知广泛的输入并调节关键过程，如细胞生长和新陈代谢。在大多数人中，mTOR途径使我们保持健康，但在极少数情况下，基因突变会导致该途径过度驱动并导致疾病。在英国，mTOR通路过度活跃导致了14种罕见疾病，影响了10,000名患者。MTOR通路疾病患者会出现一系列症状，从多个器官的良性肿瘤到导致癫痫的脑畸形，癫痫可能从婴儿时期就开始了。最常见的mTOR途径疾病是结节性硬化症(TSC)，从出生就会导致癫痫、自闭症和学习困难。与PIK3CA相关的过度生长谱(PROS)和Smith-Kingsmore综合征也会导致儿童和成年人的神经问题。相比之下，Peutz-Jeghers综合征(PJS)会导致肠道肿瘤，而淋巴管肌瘤病(LAM)会在成人中引起肺囊肿和呼吸问题。-为什么需要解决这一问题？MTOR途径疾病有共同的原因，因此患有不同疾病的患者可能会使用相同的药物进行治疗。例如，有一种药物用于治疗TSC患者，而不是用于其他mTOR途径疾病。这些患者无法获得可以改善他们的症状和照顾者生活的治疗。MTOR途径疾病的广泛症状意味着患者可以由不同的、分离的医学专科和诊所来看。这使得药物试验变得非常困难，因为每种mTOR途径疾病的患者数量都非常少。MTOR途径疾病节点将把罕见的个别mTOR途径疾病合并为一个单独的组。我们将把临床医生、研究人员、慈善机构、行业和非营利组织聚集在一起，以改善mTOR途径疾病患者的诊断、治疗和临床结果。-挑战是什么？我们在这个项目中面临的主要挑战包括识别和参与mTOR途径疾病患者的困难；标准化基因诊断、患者数据的收集和描述；招募患者进行临床试验以及获取患者组织以研究潜在的疾病机制。-我们将如何克服这些挑战以实现我们的目标？1.我们将与结节性硬化症协会和英国癫痫研究中心合作，招募将参与项目每个阶段并担任指导委员会成员的患者代表。2.我们将与患者代表合作，为mTOR途径疾病社区组织患者公众参与和参与活动。我们将为我们的合作伙伴、更广泛的研究社区和患者/公众代表举办年度研讨会，介绍我们的研究，促进网络联系，推动进步。4.我们将建立英国mTOR途径疾病患者登记处，这将吸引患者并促进临床试验。5.我们将开发资源，并使用最先进的技术来分析患者细胞和组织，这将促进了解，并导致新的治疗方法。6.为医生识别、诊断和治疗mTOR通路疾病制定新的指南，并研究新的诊断技术。-这个项目的总体好处是什么？我们将把mTOR途径疾病建立为一个连贯的患者群体。这将得到研究人员和临床医生的支持，并为基础研究和伙伴关系提供资源，以开发新的诊断工具和药物试验，使患者及其家人受益。在五年的时间里，我们将改变英国的mTOR途径疾病格局。

This application is for an 'mTOR Pathway Diseases' node, part of the UK Rare Disease Research Platform. -What is the mTOR pathway and why is it important? The mTOR pathway is a set of molecules in our cells that sense a wide range of inputs and regulate key processes, such as cell growth and metabolism. In most people the mTOR pathway keeps us healthy, but in rare cases genetic mutations cause the pathway to go into overdrive and cause disease. mTOR pathway hyperactivity causes a group 14 of rare diseases affecting 10,000 patients in the UK. mTOR pathway disease patients suffer from a range of symptoms, from benign tumours in multiple organs, to brain malformations causing epilepsy, which can start in infancy. The most common mTOR pathway disease, tuberous sclerosis complex (TSC), can cause epilepsy, autism and learning difficulties from birth. PIK3CA-related overgrowth spectrum (PROS) and Smith-Kingsmore syndrome also cause neurological problems in children and adults. By contrast Peutz-Jeghers syndrome (PJS) causes tumours in the intestine, while lymphangioleiomyomatosis (LAM) causes cysts in the lungs and problems with breathing in adults.-Why does this area need to be addressed?mTOR pathway diseases share a common cause and so patients with different diseases can potentially be treated using the same drugs. For example, there is a drug that is used to treat TSC patients that is not used in other mTOR pathway diseases. These patients are unable to access a treatment that could improve their symptoms and the lives of their carers. The wide range of symptoms in mTOR pathway diseases means patients are seen by different, dis-connected, medical specialities and clinics. This makes doing drug trials very difficult because the numbers of patients with each individual mTOR pathway disease is very small. The mTOR Pathway Diseases node will unite rare individual mTOR pathway diseases as a single group. We will bring together clinicians, researchers, charities, industry and not-for-profit organisations to improve the diagnosis, treatment and clinical outcomes for mTOR pathway disease patients. -What are the challenges?The major challenges we face in this project include the difficulty in identifying and engaging mTOR pathway disease patients; standardising genetic diagnoses, collection and description of patient data; recruiting patients for clinical trials and obtaining patient tissue to study underlying disease mechanisms. -How will we overcome these challenges to achieve our goals?1. We will partner with the Tuberous Sclerosis Association and Epilepsy Research UK to recruit patient representatives who will be involved at every stage of the project and sit on the steering committee. 2. Working with patient representatives, we will organise patient public involvement and engagement activities for the mTOR pathway disease community.3. Annual symposia will be held for our partners, the wider research community and patient/public representatives, to present our research, facilitate networking and enable progress. 4. We will establish a UK patient registry of mTOR pathway diseases, which will engage patients and facilitate clinical trials. 5. We will develop resources and use state-of-the art techniques to analyse patient cells and tissue, which will accelerate understanding and lead to new treatments. 6. We will develop new guidance for doctors to identify, diagnose and treat mTOR pathway diseases and investigate new technologies for diagnosis. -What are the overall benefits of this project?We will establish mTOR pathway diseases as a coherent patient population. This will be supported by researchers and clinicians with the resources for basic research and partnerships to develop new diagnostic tools and drug trials, to benefit patients and their families. Over five years we will transform the mTOR pathway disease landscape in the UK.