Basic science collaboration with Dr. Kevin Campbell, Department of Physiology and Biophysics involves the pathologic characterization of genetic mouse models of muscular dystrophy. Our most recent basic science collaborations use Cre-lox methodology to selectively knock out brain or peripheral nerve dystroglycan. These mice model congenital muscular dystrophy. Clinical diagnostic work in the general area of muscular dystrophies has expanded into basic and clinical research projects in collaboration with Drs. Jerry Mendell (Department of Neurology, Ohio State University), Kevin Campbell, and Kathy Mathews (Department of Pediatrics, The University of Iowa). Current clinical studies involve: (1) a multicenter study of limb-girdle muscular dystrophy (LGMD) aimed at characterizing genotype/phenotype relationships in this diverse array of muscular dystrophies, (2) a gentamicin treatment trial in Duchenne and sarcoglycan-deficient muscular dystrophy patients with mutations that lead to stop codons, and (3) a safety trial of AAV-minidystrophin in Duchenne muscular dystrophy patients.

Recent publications