Models of Neuromuscular Disease Across the Lifespan

项目摘要/摘要 这项申请提出了一个国际会议，题为“一生中神经肌肉疾病的模型”。我们的目标是提供一种从工作台到旁边的翻译方法来开发治疗，并最终实施到日常临床实践中。会议一将讨论以下主题：“DMD作为终生神经肌肉疾病的典范。”在那次会议上，我们将讨论杜氏肌营养不良症症状前、早期症状和晚期症状儿童的预后措施和治疗。第二节将讨论“作为疾病机制的细胞外基质功能障碍”。在本次会议中，将讨论细胞外基质和骨骼肌之间的相互作用，并概述靶向治疗。本课程将讨论“非编码重复作为疾病的机制”。这个会议将讨论作为疾病机制发生的RNA剪接失调。第四节将讨论“伴侣功能障碍的机制”。本会议将介绍伴侣生物学，包涵体肌炎的自然历史，并讨论作为治疗包涵体肌炎的伴侣功能障碍的靶向疗法。第五节将讨论“自身免疫”，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记物，以及自身免疫性疾病的新疗法，如FcRN调节。最后一次会议将为年轻研究人员提供指导，以促进更多地参与神经肌肉研究。在整个会议期间，将有多个指导和网络机会。我们已经为新成员留出了一个上午研讨会和开放对话晚餐研讨会，重点是开始--2015年周六24日给年轻调查人员的建议。将有一个研究技能研讨会，让年轻的研究人员有机会从神经肌肉领域最优秀的人那里获得关于临床试验的基础知识以及如何在开始时取得成功的见解。这次会议汇集了来自学术界、基金会和制药行业的翻译和临床科学家，在一个合议性论坛上。这项提议是由联合主席与肌肉研究小组的领导共同制定的。这次会议欢迎肌肉研究小组、英国神话学学会和其他组织参加。会议的科学重点将是具有临床重要性和翻译潜力的多种神经肌肉疾病共同的关键交叉主题。这次会议将在一个环境中举行，将把高级调查人员、制药公司的代表、国家卫生研究院项目工作人员、基金会和患者倡导代表以及初级/见习调查人员聚集在一起。会议为受训者和初级教员提供了建立网络的机会，使他们更了解开发神经肌肉疾病新疗法的要求和机会，以及如何根据最近的进展调整自己的临床实践。会议的背景和形式促进了现有调查员之间以及高级调查员和新/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进行平台演示。将鼓励和支持受训人员参加并介绍他们自己的工作。 所有演示文稿的摘要都将出版。这次会议旨在鼓励和帮助住院医师、实习生和初级教员从事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.