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Barry J. Byrne, MD, PhD

Powell Gene Therapy Center
University of Florida
1600 SW Archer Road
Gainesville, Florida, United States

Dr. Barry J. Byrne is a clinician scientist interested in a variety of rare diseases, with specific attention to developing therapies for inherited muscle disease. He is a Professor of Pediatrics and Molecular Genetics & Microbiology at Department of Pediatrics in University of Florida. As a pediatric cardiologist, his focus is on conditions that lead to skeletal muscle weakness, cardiac dysfunction, and respiratory dysfunction. His research team has made significant contributions to the understanding and treatment of Pompe disease, a type of muscular dystrophy resulting from abnormal glycogen accumulation in the muscle. His current research has focused on developing new therapies using the missing cellular protein or the corrective gene to restore muscle function in Pompe and other inherited myopathies.

Dr. Byrne’s research is aimed at understanding types of inherited muscle disease, which lead to heart and skeletal muscle dysfunction. Current research focus is aimed to help those affected by Pompe Disease, an autosomal recessive lysosomal storage disease, and Barth Syndrome, a chromosomal X-linked defect.


Representative Publications:

Multicenter Prospective Longitudinal Study of Magnetic Resonance Biomarkers in a Large Duchenne Muscular Dystrophy Cohort

Examination of effects of corticosteroids on skeletal muscles of boys with DMD using MRI and MRS

Longitudinal timed function tests in Duchenne muscular dystrophy: ImagingDMD cohort natural history