Research Plans and Committees for FSHD Research

Research Planning – Helping to Solve FSHD

Since the identification of the FSHD locus on 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.  

We continually ask ourselves:  What do we know about FSHD? What do we not know about FSHD? What do we need to know about FSHD? What are the obstacles to complete understanding? What must we – the FSH Society, as well as the FSHD patient and professional community at large - do next to accelerate progress toward solving FSHD?

These questions are addressed by generating plans and strategies that come from the consensus of researchers, clinicians, patients, funding agencies and industry.

In 2006, in Cambridge, Massachusetts the FSH Society addressed these questions at a planning meeting of its Scientific Advisory Board (SAB) and other members of the FSHD research community. We developed the FSH Society FSHD Tactical and Strategic Research Plan – a review of FSH Society grant funding, how it has been spent, and what it has accomplished; and an assessment of how to go forward to find treatments and a cure for FSHD.

This plan and related recommendations will guide the direction of the FSH Society’s research programs, and will help optimize FSHD research funding by federal agencies, non-profits and private funding sources.  For more about the FSH Society FSHD Tactical and Strategic Research Plan, click HERE.

The Muscular Dystrophy Community Assistance, Research and Education Amendments of 2001 (MD - CARE Act) authorized the establishment of the Muscular Dystrophy Coordinating Committee (MDCC) to coordinate activities across the National Institutes of Health and with other federal health programs and activities relevant to the various forms of muscular dystrophy.  Daniel Paul Perez, President, CEO and co-founder of the FSH Society, has served as a member of the MDCC since its inception, one of five patient advocates on the committee.  In 2005, the MDCC developed and submitted to the U.S. Congress an Action Plan for the Muscular Dystrophies, which Congress approved. The Action Plan covers all nine major forms of muscular dystrophy. To read more about the MDCC and the Action Plan for the Muscular Dystrophies, click HERE.