Carolinas HealthCare System

The following individuals have graciously agreed to present their work.  Speakers listed in alphabetical order.

Matthew Alexander, PhD
Boston Children's Hospital

Generation, characterization, and drug compound screening of a zebrafish model of LGMD2I

Anthony Blaeser, PhD
Carolinas HealthCare System

Progressive impairment of cardiac function in FKRP P448L mutant mice
Sue Brown, PhD
Royal Veterinary College, University of London

Cajal-Retzius cell mislocalisation correlates with the severity of structural brain defects in mouse models of dystroglycanopathy

Kevin Campbell, PhD
University of Iowa
Mechanistic insights into glycosylation-deficient muscular dystrophy and therapeutic implications
Sebahattin Cirak, MD
Uniklinik Köln

 Adeno-associated virus (AAV) vector-mediated gene therapy for FKRP deficiency

Tina Duong, PTD
Children's National Medical Center

Patient reported quality of life measures in limb-girdle muscular dystrophy: correlation with clinical outcomes
James Ervasti, PhD
University of Minnesota
Urinary biomarkers inform on muscular dystrophy pathogenesis
Minoru Fukuda, PhD
Sanford-Burnham Medical Research Institute
Laminin binding O-glycan depletion on α-dystroglycan in prostate cancer cells promote epithelial-mesenchymal transition and enhance perineural invasion

Amy Harper, MD
Carolinas HealthCare System

Case presentation: 6 year old female with a dystroglycanopathy
Madhuri Hegde, PhD
Emory University School of Medicine

Genomic approaches to neuromuscular disorders

Qi Lu, MD, PhD
Carolinas HealthCare System
Functional glycosylation of α-dystroglycan and muscle regeneration in FKRP mutant mice

Katherine Matthews, MD
University of Iowa Carver College of Medicine

Clinical summary of eight unrelated individuals with GMPPB mutations
Jerry Mendell, MD
The Research Institute at Nationwide Children's Hospital
Molecular therapy for muscular dystrophy: a decade of research, challenges and a way forward
Claudia Mitchell, PhD
LGMD2i Research Fund
LGMD2I Fund: Building and supporting programs to expedite the cure for Limb Girdle Muscular Dystrophy 2I
Glenn Morris, PhD
RJAH Orthopaedic Hospital and Keele University
New monoclonal antibodies against alpha-dystroglycan
Anne Rutkowski, MD
Outcome measures in aDG with cognitive impairment
Tatsushi Toda, PhD
Kobe University
α-dystroglycanopathy and molecular targeting therapy 
Charles Vannoy, PhD
Carolinas HealthCare System
AAV-mediated gene therapy ameliorates dystrophic phenotypes
Kathryn Wagner, MD, PhD
Kennedy Krieger Institute
A xenograft model for preclinical therapeutic studies in muscular dystrophy
Steve Winder, PhD
University of Sheffield
Phosphorylation-dependent regulation of dystroglycan function
Bo Wu, PhD
Carolinas HealthCare System
Glucocorticoid steroid and bisphosphonate for FKRP related muscular dystrophy: Trials in FKRP mutant animal models
Xiao Xiao, PhD
University of North Carolina at Chapel Hill
Discovery of biomarkers for LGMD2I

Abstract Information

All speakers are asked to submit abstracts no later than February 14, 2015 at 11:59 p.m. eastern time.

Abstract Instructions:

  1. Submission: Please send completed abstracts to Anthony Blaeser at no later than February 14, 2015.
  2. Title: The abstract title should be in sentence-style capitalization. Do not use all caps.
  3. Word limit: Abstracts should be kept to a 300 word limit.
  4. Formatting: Please submit abstract as a Word document.

If you have any questions regarding abstract submission please contact Anthony Blaeser at