Models of Neuromuscular Disease Across the Lifespan

University Of Kansas Medical Center, Kansas City KS

Investigators

Abstract

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.