Development of a Cellular Dysferlin Deficiency Screening Assay
Project Summary: The aim of this project is to develop a simple test for the well-being of a muscle cell in the absence of dysferlin and to use the test to identify compounds (potential drugs) that improve the well-being of dysferlin deficient muscle cells. Since the project was initiated in July 2012, two such tests were developed, and each was used to screen a library of compounds including approved drug and bioactive compounds. The screen identified several hits that might be useful in treating the disease caused dysferlin deficiency, which are currently being characterized. If any of these leads continue to appear promising following characterization, the next likely step will be evaluation of the compound in animal models of dysferlin deficiency.