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.
The FSH Society has played a key role in driving these efforts: advocating, educating, coordinating, networking, planning, and organizing and funding research. We have awarded over $2 million in research grants since 1999, supporting innovative ideas, and recruiting and supporting scientists and clinical researchers. When the Society started, there were only a handful of scientists and clinical researchers working on FSHD. It was not customary for institutions to fund salaries for FSHD research, and researchers were reluctant to enter the field. Early on the Society recognized the need to attract promising young researchers to the field and to support the relatively few established FSHD researchers, both financially and by fostering the exchange of information. Our seed funding has paid off by fostering a community of more than 300 FSHD researchers worldwide, who have successfully secured over $40 million of government funding since 1999. The FSH Society research program is responsible for the rapid growth in publications over the last decade, resulting in more than 300 peer-reviewed journal articles acknowledging the support of the FSH Society.
The FSH Society’s research funding allows innovative and entrepreneurial research to develop and ultimately to be able to attract funding from large funding sources such as the US National Institutes of Health (NIH), MDAUSA and Association Francais contre les Myopathies (AFM). The FSH Society helps move the field forward with critical seed funds to develop data and bring novel ideas to the next stage of development.
The Society's Scientific Advisory Board is critical to this work. Chaired by Professor David Housman of MIT, an internationally renowned geneticist, the SAB is composed of international experts whose knowledge of FSHD research ensures both that new research is complementary, not duplicative, and that it holds promise to fill gaps in existing knowledge. The SAB provides strategy for FSHD research, recruits researchers, evaluates and approves research proposals, and monitors projects and research opportunities. Several SAB members are also advisors to the National Institutes of Health (NIH), the Muscular Dystrophy Association (MDA) and the Association Francais contre les Myopathies (AFM - the French Muscular Dystrophy Association) on FSHD and other muscular dystrophies. SAB members are in close contact with NIH, MDA and AFM, which fosters collaboration and helps avoid funding overlap and duplication.
Expanding FSHD Research through Philanthropy
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. It is also important to improve the experience of the current fellows by providing opportunities for fellows in U.S. laboratories to work for a time abroad, and for fellows based in foreign labs to work in the United States.
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 in the United States; 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. The SAB would identify needed resources, and the Society would develop specific proposals and submit them to agencies for funding.
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. One productive way to do this would be to hold an annual retreat of a small number of distinguished researchers from within and without FSHD research to discuss new approaches to investigating FSHD. This retreat would be separate from the FSH Society International Research Consortium Workshop because it would not reflect current experimental models and data, but rather would be more open-ended, with the goal being the development of new conceptual approaches.