Models of Neuromuscular Disease Across the Lifespan

整个生命周期的神经肌肉疾病模型

• 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
• 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

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.

项目摘要/摘要 该申请提出了一个国际会议，题为“整个生命周期的神经肌肉疾病的模型”。我们的目标是为临时转化方法提供治疗开发的方法，并将最终实施到日常临床实践中。会议我将介绍以下主题：“ DMD作为整个生命周期的神经肌肉疾病的模型。”在那段会议中，我们将讨论预症状，早期症状和晚期症状性肌营养不良儿童的结果指标和治疗方法。第二会议将涵盖“细胞外基质功能障碍作为疾病机制”。在本届会议中，将讨论细胞外基质和骨骼肌之间的相互作用，以及靶向疗法的概述。会议疾病将涵盖“作为疾病机制的非编码重复”。本届会议将讨论作为疾病机制发生的RNA剪接失调。 IV会议将涵盖“伴侣功能障碍的机制”。本次会议将涵盖伴侣体内肌炎的自然史，并讨论针对伴侣功能障碍的靶向疗法，以治疗纳入人体肌炎。 V会议将涵盖“自身免疫”，并将包括免疫功能障碍的新靶标，与肌无力重症肌无力相关的生物标志物以及用于自身免疫性疾病的新型治疗方法，例如FCRN调节。最后一届会议将为年轻研究人员提供指导，以促进对神经肌肉研究的参与。在整个会议期间，将有多个指导和网络机会。我们为新成员准备了一个早晨的研讨会和公开对话晚餐研讨会，重点是入门 - 2015年星期六的年轻调查人员的建议。将有一个学习技能讲习班，这将使年轻的调查人员有机会从神经肌肉领域最好的临床试验基础知识以及如何成功的神经肌肉领域中获得最好的见解。这次会议汇集了学术界，基金会和制药的转化和临床科学家在一个大学论坛上。该提案是由与肌肉研究小组领导的联合主席制定的。该会议开放，可以参加肌肉研究小组，英国肌病学会和其他小组的出席。会议的科学重点将是对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跨切割主题。该会议将在一个环境中举行，该环境将带来高级调查人员，制药公司的代表，国立卫生研究院工作人员以及基金会和患者倡导代表与初级/受训者的调查员一起举行。该会议为受训者和初级教师提供了网络的机会，以便更多地了解开发神经肌肉疾病的新型治疗方法的要求和机会，以及如何根据最近的进步来调整自己的临床实践。环境和会议格式促进了既定调查人员之间以及高级和新的/初级调查人员之间的合作。所有与会者将被邀请提交其工作会议以进行平台演示文稿。学员将得到鼓励和支持参加并展示自己的工作。 所有演示文稿的摘要将出版。该会议旨在鼓励和协助居民，学员和初级教师从事实验性治疗事业。