Discovery of chemical chaperones for the treatment of FKRP-related limb girdle muscular dystrophy 2I

Dr. Sebahattin Cirak

Children’s National Medical Center (Washington, DC)

 

Project Summary:

This grant supports drug screening on mutant forms of FKRP, in the search for compounds that restore normal protein function. A library of chemical chaperones will be tested for their ability to stabilize and restore protein folding in FKRP mutated forms. The project will use a novel approach for the analysis of FKRP mutants and will allow for the identification of highly selective drug candidates that could be further tested in patients’ cells and in murine models of FKRP deficiency.

This grant is jointly-funded by the LGMD2I Research Fund, the Samantha Brazzo Foundation and Cure CMD.