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| Professor |
| Office:
919-966-9398 |
| E-mail:
joe.kornegay@pathology.unc.edu |
| Also see NCDMD website |
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| For the past 25 years, I have studied a spontaneous canine disease termed golden retriever muscular dystrophy (GRMD), which serves as an animal model for Duchenne muscular dystrophy (DMD) of humans. Both conditions are X-linked, occurring due to mutations in the dystrophin gene. My research group has defined key clinical and pathologic features of GRMD to both better understand disease pathogenesis and to also utilize these parameters in assessing treatment efficacy. In recent years, working with collaborators, we have studied various treatments (cell, molecular, and pharmacologic approaches) in affected dogs. Results of these preclinical studies should guide use of similar treatment strategies in DMD patients. My own personal research centers on studies to define the basis of phenotypic variation in affected dogs. In particular, I am interested in identifying potential modifier genes through microarray analysis. Another project is directed at defining the specific role that myostatin plays in phenotypic variation and whether blocking its action leads to improvement. We have recently received a Co-operative Program in Translational Research (U24) Grant from NIH (NINDS and NIAMS) to establish the National Center for Canine Models of Duchenne Muscular Dystrophy (NCDMD) at the University of North Carolina-Chapel Hill. |
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