Models of Neuromuscular Disease Across the Lifespan

项目总结/摘要 本申请提出了一个国际会议，题为：“跨越生命周期的神经肌肉疾病模型”。我们的目标是提供一种从实验室到旁边的转化方法来开发治疗，最终实现日常临床实践。第一部分将涵盖以下主题：“DMD作为终生神经肌肉疾病的模型。“在这次会议上，我们将讨论结果的措施和治疗的前驱，早期症状和晚期症状的杜氏肌营养不良症的儿童。第二节将涵盖“细胞外基质功能障碍作为一种疾病机制。“在这次会议上，将讨论细胞外基质和骨骼肌之间的相互作用，以及靶向治疗的概述。第三节将涵盖“非编码重复作为一种疾病机制。“本次会议将讨论RNA剪接失调，发生作为一种疾病机制。第四节将涵盖“伴侣功能障碍的机制。“本次会议将涵盖分子伴侣生物学，包涵体肌炎的自然史，并讨论作为包涵体肌炎治疗的分子伴侣功能障碍的靶向治疗。第五部分将涵盖“自身免疫”，并将包括免疫功能障碍的新靶点，与重症肌无力相关的生物标志物，以及自身免疫性疾病的新治疗方法，如FcRn调节。最后一次会议将为年轻的研究人员提供指导，以促进更多的参与神经肌肉研究。整个会议期间将有多个指导和网络机会。我们为新成员预留了一个上午的研讨会和公开对话晚餐研讨会，重点是开始-2015年星期六24日为年轻调查员提供建议。将有一个学习技能研讨会，让年轻的研究人员有机会从神经肌肉领域最好的人那里获得关于临床试验基础知识以及如何在开始时取得成功的见解。本次会议汇集了来自学术界，基金会和制药的翻译和临床科学家在一个合议论坛。该提案由联合主席与肌肉研究小组的领导合作制定。这次会议是开放的肌肉研究小组，英国肌肉学会和其他团体出席。会议的科学重点将是具有临床重要性和转化潜力的多种神经肌肉疾病共同的关键交叉主题。会议将在一个环境中举行，将使高级研究人员，制药代表，国立卫生研究院项目工作人员，基金会和患者倡导代表与初级/实习研究人员一起。会议为学员和初级教师提供了网络机会，更了解开发神经肌肉疾病新疗法的要求和机会，以及如何根据最新进展调整自己的临床实践。这种环境和会议形式促进了资深调查员之间以及高级和新/初级调查员之间的合作。所有与会者将被邀请提交他们的工作会议的平台介绍。将鼓励和支持学员参加并介绍他们自己的工作。 所有演讲的摘要都将出版。该会议旨在鼓励和帮助居民，学员和初级教师追求实验治疗学的职业生涯。

Project Summary/Abstract This application proposes an international conference entitled: "Models of Neuromuscular disease Across the Lifespan". Our goal is to offer a bench-to-beside translational approach to therapy development with ultimate implementation into everyday clinical practice. Session I will cover the following topic: "DMD as a Model of neuromuscular Disease Across the Lifespan." In that session, we will discuss outcome measures and treatments for presymptomatic, early symptomatic and late symptomatic children with Duchenne Muscular Dystrophy. Session II will cover "Extracellular Matrix Dysfunction as a Disease Mechanism." In this session there will be a discussion on the interaction between the extracellular matrix and skeletal muscle, and overview of targeted therapies. Session Ill will cover "Non-coding Repeats as a Disease Mechanisms." This session will discuss RNA splicing dysregulation that occurs as a disease mechanism. Session IV will cover the "Mechanisms of Chaperone Dysfunction." This session will cover chaperone biology, the natural history of inclusion body myositis, and discuss targeted therapeutics for chaperone dysfunction as a treatment of inclusion body myositis. Session V will cover "Autoimmunity" and will include novel targets of immune dysfunction, biomarkers associated with myasthenia gravis, and novel therapeutic for autoimmune disease, such as FcRn Modulation. The final session will provide mentoring for young investigators to promote increased engagement in neuromuscular research. There will be multiple mentoring and networking opportunities throughout the meeting. We have set aside a morning workshop and open dialogue dinner seminar for new members with the focus on getting started - advice for young investigators on Saturday 24, 2015. There will be a Study Skills Workshop that will allow young investigators the opportunity to receive insight from the best of the best in the neuromuscular field about the basics of clinical trials and how to be successful when starting out. This conference brings together translational and clinical scientists from academia, foundations, and pharma in a collegial forum. This proposal has been developed by co-chairs working with the leadership of the Muscle Study Group. The conference is open to attendance from the Muscle Study Group, the British Myology Society and other groups. The conference's scientific emphasis will be on key cross-cutting themes common to multiple neuromuscular disorders that have clinical importance and translational potential. The conference will be held in an environment that will bring senior investigators, representatives of pharma, National Institutes of Health program staff, and foundation and patient advocacy representatives' together with junior/trainee investigators. The conference provides opportunities for trainees and junior faculty to network, to be more informed regarding the requirements and opportunities for developing novel treatments for neuromuscular diseases and how to adjust their own clinical practice in response to recent advances. The setting and the meeting format foster collaboration among established investigators and between senior and new/junior investigators. All attendees will be invited to submit their work sessions for platform presentation. Trainees will be encourage and supported to attend and to present their own work. Abstracts of all presentations will be published. The conference is designed to encourage and assist residents, trainees and junior faculty to pursue a career in experimental therapeutics.