Since the identification of the FSHD genetic locus on the tip of chromosome 4 in the early 1990’s, FSHD research has made quantum leaps in understanding the mechanism and function of the molecular, cellular and evolutionary biology of the disease. Today there is a much better understanding of the underlying biology of FSHD – so much so that FSHD research has begun to enter the area between basic research and clinical trials known as translational research. Researchers and clinicians have begun to identify major biochemical pathways in muscle control and growth and high priority drug targets for the disease. FSHD cell and animal models have begun to be developed that help build and accelerate the rationale for preclinical testing of candidate drugs.
Despite these achievements, however, the precise and complete genetic, biological, chemical and physical mechanism of FSHD is still unknown, and there are no effective treatments or cures. It is, therefore, critical to expand FSHD research. The methods for expanding research are threefold.
First, the pool of researchers must be increased. Expanding the pool of researchers requires donations to the FSH Society of both size and quantity to support increasing the number of fellows.
Second, additional resources, materials and tools must be acquired. There is a great need for financial help to support programs to develop vital and identifiable research resources. For example, there has been a problem in obtaining and preserving muscle biopsies and cell lines from affected families; we need to help develop permanent repositories for these materials. Another area in need of funding is efforts to map and sequence allele- and repeat-specific segments of the genome for both conventional and non-conventional genes believed to be implicated in the development of FSHD.
Third, innovative approaches must be supported and given an opportunity to be tested. As resources are developed to maximize current avenues of investigation, we need to continue to appreciate the complexity and difficulty which have been the experience of FSHD research. Innovative approaches, capitalizing on the experience of the best researchers on FSHD, with contributions from other areas of biomedical investigation, are needed to keep the field intellectually challenged and stimulate additional research.