Keynote Speakers

Steven Greenberg, MD
Brigham and Women’s Hospital
Experiences in Academic Translational Medicine

Francesco Muntoni, MD
University College London
Clinical Trials in DMD 2016: Where are we?

Session I: DMD as a Model of Neuromuscular Disease Across the Lifespan

Anne Connolly, MD
Washington University School of Medicine
Outcomes Measures in infants and young boys with DMD

Valeria Sansone, MD, PhD
University of Milan, NEMO Center
Trial Design in DMD: Lessons Learned from Natural History

Robert B. Weiss, PhD
University of Utah
Genetic Modifiers in DMD

Session II: Extracellular Matrix Dysfunction as a Disease Mechanism

Dean Burkin, MD
University of Nevada School of Medicine
The Myomatrix Reloaded: Integrin and ECM therapies for the muscular dystrophies

Katherine Mathews, MD
University of Iowa Children’s Hospital
Dystroglycanopathy Cohort

Carsten Bonnemann, MD
National Institute of Neurological Disorders and Stroke/NIH
Collagen VI-related dystrophies: A translational update

Session III: Non-coding Repeates as a Disease Mechanism

Thomas A. Cooper, MD
Baylor College of Medicine
Myotonic dystrophy as a paradigm for RNA gain function disease mechanisms

Charles A. Thornton, MD
University of Rochester
Update on myotonic dystrophy trial readiness

Nicholas Johnson, MD
University of Utah
Disease Progression and pathogenesis in congenital myotonic dystrophy

Platform Poster Presentations

David Arnold, MD
Open Label Trial of Ranolazine in Myotonia Congenita

Chad Heatwole, MD
PRISM-SMA: Patient Reported Impact of Symptoms in Adult Spinal Muscular Atrophy

Summer Karafiath, MD
The Clinical Phenotype and Neuropathic Outcomes of Paclitaxel-Acute Pain Syndrome

Pedro Machado, MD
Baseline characteristics of a prospective natural history study of sporadic inclusion body myositis including MRI assessment

Mary Pautler, MPH
Limits of Postural Stability in Myotonic Dystrophy Compared to Normative Values

Mario Saporta, MD
Axonal RNA Profiling of Human Motor Neurons from Patients with Charcot-Marie-Tooth Disease as a Novel Approach to Study Axon Degeneration

Gita Ramdharry, PhD
Evaluating the benefits of community based aerobic training on the physical health and well-being of people with Neuromuscular Disease

Don McCorquodale, MD, PhD
RNA-Seq gene expression profiling identifies up-regulation of novel muscle-specific gene musclin in adult and congenital myotonic dystrophy

Session IV: Mechanisms of Chaperone Dysfunction

Chris Weihl, MD
Washington University
Chaperone Function and Dysfunction in Neuromuscular Disease

Rudolf Kley, MD
Heimer Institute for Muscle Research
Proteomic Identification of Aggregates and Chaperones in Disease Muscle

Zohar Argov, MD
Hadassah Hospital and BioBlast Pharma
Phase 2 Trial Results of Autographic Manipulation with Trehalose in Oculopharyngeal Muscular Dystrophy

Session V: Autoimmunity

Mark Anderson, MD
UCSF- Diabetes Center
Immune Regulation, Tolerance, and Autoimmunity

Gil Wolfe, MD
University of Buffalo
MGTX: Results from the Thymectomy trial in non-thymomatous myasthenia gravis

Renato Mantegazza, MD
Instituto Neurologico C. Besta
Outcome Measures in Autoimmune NMJ diseases

Jan L. Hillson, DM                                                                                                                                                                                                                                                                                                                                                                                                Momenta Pharmaceuticals
Targeting FcRN in Neuromuscular Disease

Jon Lindstrom, PhD
University of Pennsylvania
AChR-Specific Immunosuppressive Therapy for MG

Hot Topics

Osvaldo Nascimento, MD
Universidade Federal Fluminense, Niteroi
Zika Virus Update saliva

James Howard, MD
UNC Chapel Hill
REGAIN: A Phase 2 Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Evaluate the Safety and Efficacy if Eculizumab in Subjects with Refractory Generalized Myasthenia Gravis 

Session VI: Mentoring for Young and Underrepresented NM Investigators to Promote Increased Engagement in Neuromuscular Research

Glen Nuckolls, PhD
NIH Programs for Training, Career Development and New Investigators

Richard J. Barohn, MD
University of Kansas Medical Center
Advice for Young Investigators

Jeffrey Guptill, MD
Duke University
Research Support Resources for Junior Investigators