The overall objective of the CORT is to enhance the rapid translation of new basic science discoveries into gene therapies for muscular dystrophies. The CORT is consistent with the mission of the National Institutes of Health's National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), which has the goal of finding effective treatments for and improving the quality of life of patients with debilitating forms of muscle disease.
The Center for Gene Therapy has a dedicated translational program that targets muscular dystrophies, with a particular longstanding interest in developing meaningful therapies for the most common forms, including Duchenne muscular dystrophy (DMD) and facioscapulohumeral muscular dystrophy (FSHD).
Our Center's goals include unraveling disease pathogenesis and developing new treatment paradigms that can be translated from the bench to the bedside. All three projects below make use of two critical research cores: the Therapeutic Viral Vector Design and Development Research Core (Director: Louise Rodino-Klapac, PhD; Co-director: Scott Loiler, PhD) and the Muscular Dystrophy Cell and Serum Banking Core (Director: Kim McBride, MD; Co-director: Nicolas Wein, PhD).
Project 1 seeks to extend a therapy now entering trials in DMD to other forms of muscular dystrophy, by applying the overexpression of Galgt2, an enzyme that alters skeletal muscle glycosylation to boost the expression of proteins that amerliorate disease.
Project 2 explores novel approaches to modulating the expression of the DUX4 gene to treat the relatively common and debilitating FSHD.
Project 3 seeks to rapidly translate a newly discovered mechanism for dystrophin translational control into meaningful therapy for boys with DMD.