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Jill Rafael-Fortney, Ph.D.

Professor


Contact Information

Phone: 614-292-7043, Office
614-292-7475, Lab
Email: rafael.1@osu.edu​


Education

PhD, University of Michigan
Post Doctoral, University of Oxford


Research Interest

The overall goal of my laboratory is to identify novel treatment strategies for Duchenne muscular dystrophy (DMD), a disease that affects both skeletal muscles and the heart. We use mouse models to unravel the molecular pathogenesis of DMD, identify novel molecular treatment targets, and test potential therapeutic approaches.

We test a variety of potential gene therapy, peptide, and pharmacological therapeutic approaches for their effects on dystrophic skeletal muscles and heart using a comprehensive set of in vivo and in vitro approaches. Most recently, we have identified that prophylactic treatment with standard-of-care heart failure drugs can prevent both cardiac and skeletal muscle damage in dystrophic mice. We have identified that mineralocorticoid receptors, known to be important therapeutic targets for heart failure, are also present and functional in skeletal muscles. Current research on this project is focused on unraveling the mechanisms of action of these heart failure drugs on skeletal muscles with the ultimate goal of designing novel therapeutic approaches for muscular dystrophy and other causes of muscle weakness.

In another project ongoing in the lab, we identified a protein called claudin-5 to be reduced during the earliest steps of cardiomyopathy in a mouse model of DMD. We then found that claudin-5 is also present at reduced levels in the majority of patients with heart failure from all etiologies. Maintaining normal claudin-5 levels is able to prevent the early physiological and histological hallmarks of cardiomyopathy in the mouse model where reductions were first observed. Current research in the lab is focused on identifying how claudin-5 gene expression is down-regulated preceding heart failure, optimizing claudin-5's therapeutic potential for DMD and other forms of cardiomyopathy, and determining whether claudin-5 reduction is sufficient to cause heart failure.


Publications​
Rafael-Fortney
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