Models of Neuromuscular Disease Across the Lifespan

整个生命周期的神经肌肉疾病模型

基本信息

批准号：
9195818
负责人：
Richard J. Barohn
金额：
$ 1.6万
依托单位：
UNIVERSITY OF KANSAS MEDICAL CENTER
依托单位国家：
美国
项目类别：
财政年份：
2016
资助国家：
美国
起止时间：
2016-07-01 至 2017-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9195818
关键词：
Academia Address Antibodies Autoimmune Diseases Autoimmunity Biological Markers Biology British Child Clinical Clinical Investigator Clinical Trials Collaborations Development Disease Drug Targeting Duchenne muscular dystrophy Educational workshop Enrollment Environment Enzymes Evaluation Extracellular Matrix Faculty Feedback Fostering Foundations Functional disorder Funding Funding Agency Germination Goals Human Resources Immune System Diseases Inclusion Body Myositis Industry Institution International Investigational Therapies Leadership Longevity Mentors Mentorship Methodology Methods Modeling Molecular Molecular Chaperones Muscle Myasthenia Gravis Myotonic Dystrophy Natural History Neuromuscular Diseases Neuromuscular research Outcome Measure Participant Pathway interactions Patient advocacy Process Protocols documentation Publishing RNA Processing RNA Splicing Research Research Personnel Scientist Skeletal Muscle Societies Study Skills Techniques Therapeutic Time Translations United States National Institutes of Health Untranslated RNA Work abstracting base bench to bedside career clinical practice collaborative environment congenital muscular dystrophy design drug development innovation insight investigator training meetings member neonatal Fc receptor neuromuscular next generation novel novel therapeutics physical therapist posters programs response skills statistics symposium targeted treatment therapy development translational approach translational medicine translational neuroscience

项目摘要

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.

项目概要/摘要该申请提出了一个题为“跨生命周期的神经肌肉疾病模型”的国际会议。我们的目标是为治疗开发提供一种替代性的转化方法，并最终实施到日常临床实践中。第一节将讨论以下主题：“DMD 作为整个生命周期神经肌肉疾病的模型”。在该会议中，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结果测量和治疗。第二节将讨论“细胞外基质功能障碍作为一种疾病机制”。在本次会议中，我们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。第三节将讨论“非编码重复作为一种疾病机制”。本次会议将讨论作为一种疾病机制发生的 RNA 剪接失调。第四节将讨论“伴侣功能障碍的机制”。本次会议将涵盖伴侣生物学、包涵体肌炎的自然史，并讨论伴侣功能障碍作为包涵体肌炎治疗的靶向治疗方法。第五场会议将讨论“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疗法，例如 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。整个会议期间将有多种指导和交流机会。我们在 2015 年 24 日星期六为新会员安排了上午研讨会和公开对话晚宴研讨会，重点是入门 - 为年轻研究者提供的建议。将会有一个学习技能研讨会，让年轻研究者有机会从来自世界各地的研究人员那里获得见解。神经肌肉领域最优秀的人，了解临床试验的基础知识以及如何在起步时取得成功。这次会议将来自学术界、基金会和制药界的转化和临床科学家聚集在一个学术论坛上。该提案是由联合主席与肌肉研究小组领导层合作制定的。该会议向肌肉研究小组、英国肌肉学会和其他团体开放。会议的科学重点将集中于具有临床重要性和转化潜力的多种神经肌肉疾病常见的关键交叉主题。会议将在高级研究人员、制药公司代表、美国国立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/实习研究人员聚集在一起的环境中举行。该会议为学员和初级教师提供了交流的机会，让他们更多地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。这种设置和会议形式促进了现有调查人员之间以及高级和新/初级调查人员之间的合作。所有与会者将被邀请提交他们的工作会议以进行平台展示。我们将鼓励和支持学员参加并展示自己的作品。所有演讲的摘要将被出版。该会议旨在鼓励和帮助住院医生、实习生和初级教师从事实验治疗学的职业生涯。