Jerry R. Mendell | Director, Center for Gene Therapy
Nationwide Children's Hospital

Jerry R. Mendell, Director, Center for Gene Therapy, Nationwide Children's Hospital

Jerry R Mendell graduated from the University of Texas, attended UT Southwestern Medical School, and did his neurology residency at Columbia University’s New York Neurological Institute.  He then did a post-doctoral fellowship in the Medical Neurology Branch of NIH.  In 1972 He was recruited to Ohio State University and Children’s Hospital in Columbus (now called Nationwide Children’s Hospital).  He currently holds the Curran-Peters Chair of Pediatric Research, and directs the Gene Therapy Center.   He has published >300 articles with a focus on neuromuscular disease and authored books on muscle and nerve disease. He was awarded the Scientific Achievement Award for contributions to muscular dystrophy by the MDA and received The Ohio State University Distinguished Scholar Award.  He holds joint appointments in Pediatrics, Neurology, Pathology, and Physiology and Cell Biology at The Ohio State University.  

His research in muscular dystrophy dates back to his post-doctoral fellowship in the Medical Neurology Branch at NIH in 1969. In a publication in Science in 1971 the vascular pathogenesis of DMD was highlighted and experimentally reproduced in his lab. Now, more than 4 decades later, the importance of the vascular pathway, nNOS binding sites, and experimental and clinical efficacy of PDE5 inhibitors (such as sildenafil and tadalafil) have been demonstrated.  From 1979 to 1989, a decade of research addressed the importance of standardized methods for DMD clinical trials, defined the natural history of DMD, and determined sample size for clinical trials based on power calculations.  In 1989 he was the lead author on the only widely recognized pharmacologic agent to benefit boys with DMD (N Engl J Med 1989;320:1592-1597). Prednisone or one its corticosteroid variants is recognized as the standard of therapy for DMD. 

The research direction for the Mendell Lab currently focuses on attempts to find ways of understanding and correcting the gene defects in the muscular dystrophies.   This has resulted in seminal studies including myoblast transfer in DMD ( N Engl J Med 1995;333:832-38), the first DMD gene therapy clinical trial (N Engl J Med 2010;363:1429-37), and first gene therapy trial showing efficacy in muscular dystrophy (LGMD2D) (Ann Neurol 2010;68:629-97). More recently, a gene therapy trial in Becker muscular dystrophy showed that follistatin could increase the distance walked in the six minute walk test (Mol Ther 2015;23:192-201).  In addition, he led the clinical trial on exon skipping that is the first therapeutic agent to show increased dystrophin expression in DMD (Ann Neurol 2013;74:637-47) and a follow up, long-term exon skipping trial demonstrating slowing in progression of DMD (Ann Neurol 2016;79:257-271). An additional important contribution was the development of the two-tier system for detection of DMD in the newborn.  This was a seminal study of nearly 40,000 newborn males that now sets the stage for the implementation of newborn screening for DMD. This method is widely recognized internationally as the best approach for detection of the DMD in newborn. 

Today the results of a groundbreaking study of gene therapy on spinal muscular atrophy will be presented. This clinical trial has now demonstrated efficacy in SMA type 1, the leading genetic cause of infant mortality. 

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