Nationwide Children's Research Institute
Columbus, United States
I attended my first WMS Congress in Antalya in 1999 and realized immediately that this organization and its meeting, with a goal of cross-pollinating laboratory and clinical research, was unique. With a single exception, I have enthusiastically attended every meeting since then, and was very pleased to host the 6th Congress in Salt Lake City, Utah in 2001. I have served on the Executive Board since then, and have been pleased to watch and play a small part in the evolution of the WMS over that period.
I am particularly struck by the society’s truly global view of research, patient care, and training. Scientific advancements are accelerated by international collaborations, a view made personal for me by my own sabbatical in Paris at the Institut de Myologie in 2006-2007. In addition to providing a forum for development of such global collaborations, the WMS has taking a leading role in supporting the development of young investigators, another topic important to me. Reflecting upon my own training experiences in Neurology and Neuromuscular Disease at the Johns Hopkins Hospital, followed by a post-doctoral fellowship in Human Molecular Biology and Genetics at the University of Utah, I established, in 2011, the Nationwide Children’s Hospital/Ohio State University Myology Course, Since then, this annual week-long course—provided at no cost—has been attended by over 600 MD or PhD trainees, all of whom are steered toward the WMS.
The growth over the past two decades of both the annual congress and the society itself reflects the increased interest and organization of academic, patient-focused, and industry partners over the past two decades. Over the coming years we have the opportunity to expand our efforts at outreach in order to address global issues of equity and access in neuromuscular patient care. I would very much like to contribute to the continued growth and direction of the WMS in the future by service on the Executive Board.
I am the Director of the Center for Gene Therapy at the Abigail Wexner Research Institute of Nationwide Children’s Hospital (NCH) in Columbus, Ohio (USA), where I hold the Robert F. & Edgar T. Wolfe Foundation Endowed Chair in Neuromuscular Research. I am also Director of the Neuromuscular Division as well as the MDA and Neuromuscular Clinics at NCH, and Professor of Pediatrics and Neurology at the Ohio State University. I directed the NCH NIAMS P50-funded Center of Research Translation in Muscular Dystrophy Therapeutic Development from 2016-2022.
I have been a member of the Executive Board of the World Muscle Society since 2001, and am also a past chair of the Executive Committee of TREAT-NMD. My laboratory’s work is directed toward the molecular characterization and therapy of neuromuscular diseases using both gene replacement on RNA-modifying therapies, and toward the identification of genetic modifiers of disease. I have conducted multiple clinical trials of gene modifying and gene transfer therapies in Duchenne muscular dystrophy (DMD) as well as the childhood neurodegenerative disorders mucopolysaccharidosis types 3A and 3B. Most recently, our lab’s work has led to a first-in-human trial of vectorized exon skipping, using a U7snRNA vector to restore full-length dystrophin expression in an infant.
