Priority Areas of Interest

FSHD Global invites proposals from investigators for research directed at the twin goals of better understanding the human disease Facio-Scapulo-Humeral Dystrophy and identifying treatments.  Although all applications will be considered on their merits, the below information provides some guidance as to areas the Foundation currently considers of special importance.  These priority areas of interest are reviewed and updated periodically.

 

The following areas are of interest to the Scientific Advisory Committee:

 

Research into Disease Mechanism

  • Identification of novel genes & gene products/proteins involved in the disease process of FSHD

  • Studies of the gene FRG1 and upstream modulators and downstream effectors of FRG1*

  • Studies of other promising candidate genes involved in FSHD pathogenesis and their upstream and downstream pathways

  • Understanding the pathophysiology of muscular defects in FSHD patients

  • Understanding the underlying genetic basis of FSHD, including the causes and impact of reduced D4Z4 repeat copy numbers

  • Studies focussed on elucidating the triggers involved in turning healthy muscle tissue into diseased tissue in FSHD gene carriers

  • Creation and characterisation of new animal models for FSHD using genetic technology, including transgenic and gene knock-out strategies

*Considered very high priority

 

Translational Research

  • Testing of novel therapies for the treatment of FSHD in pre-clinical models of dystrophy, such as the FRG1 transgenic mouse

  • Toxicology testing of novel therapies for FSHD in appropriate pre-clinical models

  • Pre-clinical development and testing of antisense, exon-skipping or interference RNA (iRNA) constructs for promising candidates for gene therapy of FSHD

  • Research into targeted delivery methods of therapeutics into FSHD diseased muscle tissue

  • Limited funding to support Phase 1 and Phase 1b clinical trial testing of novel therapies for FSHD in humans. (Note.  Phase 1b implies trial in FSHD patients rather than healthy volunteers)

  • Research into muscle transplant technologies, including stem-cell therapies for treatment of FSHD

 

To enquire about the next round of research grants please email research@fshdglobal.org