Increase the number of studies on the relationships between genotype and phenotype. This requires accurate and robust genotyping studies comparing disease severity within families. It is difficult to obtain financial support to establish genotype information. There are privacy issues associated with doing this on a broad scale, but establishing a central registry would help. It is important to characterize the gene defects in this family and see if this provides a better understanding of FSHD disease processes.
Resources Create new animal models.
Understanding of FSHD would be improved by general availability of a good animal model that has genetic defects and phenotypes that are similar to the human disease. Once a strong colony is established, mice should be readily available to groups with expertise in many areas of muscle biology. Facilitate use of differential gene and protein expression techniques which can serve as the basis of additional FSHD models, as well as provide directions for new therapeutic approaches. Enhance formation of clinical and basic research consortia. Such consortia could initiate clinical and basic studies, and conduct clinical trials.