FSHD Foundation Kievietslaan 34
2243 GD Wassenaar
Tel 070 - 511 84 66
Fax 070 - 514 46 92
info@fshd.nl
Bank 49 55 14 934

Strategy 2008-2011 (Roadmap to Solutions)

In November 2007 the FSHD Foundation organized a second scientific symposium to discuss the most recent scientific developments in FSHD, review the Roadmap achievements, and develop its research strategy (roadmap) for the next 4-5 years.

It was decided that next to continuous support of research that will increase our understanding of the detailed causes of FSHD, our Roadmap for the next 5 years should focus on studies that can improve the day to day quality of life of FSHD patients.

As a consequence, the 2007-2001 Roadmap will focus on the following projects:

  • Follow-up studies on aerobic training and fatigue, using additional monitoring tools such as MRI and a web-based personalized monitoring system.
  • New comprehensive bioinformatics analysis to gain more detailed insights in the disease mechanism through existing data, via international collaboration.
  • Continuation of the effects of oxygen damage and inflammation in FSHD. In this project the effects of ageing and oxidative stress on progression of the disease and whether diet and lifestyle may slow down this progression will be studied.
  • Studies have shown that a change in chromatin structure is central to the FSHD disease mechanism. What still needs to be investigated is the exact determination of the dynamic changes of the chromatin structure in FSHD and what the consequences and modulators of these changes are. With this knowledge we hope to be able to develop possible therapeutic avenues for patients.
  • As FSHD is such a rare disease, international standards for clinical and molecular diagnosis and procedures for treatment and care of patients are very important. To realize this, the FSHD Foundation will look into organizing a meeting with all European stakeholders.
  • Very recently, 2 specific genes - FRG1 and DUX4 - were identified as the most important candidates in the cause and progression of FSHD. The FSHD Foundation will continue to support research in this area.