Pediatric neuromuscular diseases are devastating and poorly understood group of genetic disorders for which there are few effective treatments. There are over 40 childhood muscle diseases, known as myopathies, which present from birth with muscle weakness and delayed ability to speak, sit, and walk. Many times children with these diseases are confined to a wheelchair their entire lives, may not be able to perform basic functions for themselves, and may have physical limitations in how they communicate and interact with the world. Currently there are no cures for these diseases, nor even drugs that can slow the pace of muscle weakness in these children.
PNR&D scientists are tackling this problem by identifying and understanding the function of the muscle genes and proteins that are involved in the development of myopathies, and through novel animal models of childhood muscle disease.
PNR&D investigators have created a unique and practical animal model to study myopathies: the zebrafish. Zebrafish develop quickly, breed rapidly, and have muscle structure and development very similar to that of humans. They also are easily modified to make genetic models of diseases that can be used to learn more about the origins and progression of muscle disorders. Unlike rodent genetic models, disease-specific zebrafish models that are developed in the laboratory can be produced in large quantities and used in large-scale, high-throughput drug screens to more rapidly identify agents with potential therapeutic impact.
Current research projects by PNR&D investigators:
- The genetic basis of pediatric muscle diseases
- Using zebrafish to understand the role of Dynamin-2 in human neuromuscular disease
- Insight into myotubular myopathy using zebrafish
- Testing drugs in zebrafish
- Targeted therapy discovery and clinical trials for myopathy
- Clinical research efforts for myopathy conditions