NEW DIAGNOSTIC TEST FOR MUSCULAR DYSTROPHY

THE GOAL OF THIS PROJECT IS TO VALIDATE A NEW DIAGNOSTIC TEST FOR DUCHENNE (DMD) AND BECKER (BMD) MUSCULAR DYSTROPHY. A LARGE BANK OF DOCUMENTED HUMAN BIOPSIES WILL BE ESTABLISHED. POLYCLONAL SERA LABS, INC. (PSL), WILL COLLABORATE CLOSELY WITH THE WORLD EXPERTS WHO DISCOVERED THE MARKER, DYSTROPHIN, WHICH IS THE PRODUCT OF THE MUSCULAR DYSTROPHY GENE. USING THEIR REAGENTS AND METHODS, PSL WILL ASSAY 1,000 BMD/DMD BIOPSY SAMPLES AND 1,000 CONTROLS FROM 20 NEUROMUSCULAR DISEASES FOR THE DIAGNOSTIC MARKER. IF VALIDATED, THESE DATA WILL BE USED IN SUBMISSION TO THE U.S. FOOD AND DRUG ADMINISTRATION FOR APPROVAL TO USE THIS TEST IN PSL'S COMMERCIAL REFERENCE LABORATORY, WHICH IS DEDICATED TO PROVIDING GENETIC-SCREENING SERVICES USING PROTEIN-BASED DIAGNOSTICS. THIS APPROACH WILL BE USED FOR FURTHER WORK ON CARRIER AND PRENTAL TESTING, AND FOR OTHER GENETIC DISEASES WHERE THE DEFECTIVE GENES HAVE BEEN CLONED. UNLIKE OTHER GENE-BASED TESTS, WHICH REQUIRE MULTIPLE FAMILY SAMPLES AND PREDICT ONLY THE PROBABILITY OF THE DISEASE, THIS TEST WOULD PROVIDE A DEFINITIVE YES OR NO ON A SINGLE PATIENT SAMPLE.