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Shunji Tomatsu, MD, PhD, leads the Skeletal Dysplasia Research Laboratory in our Center for Orthopedic Research and Development. As the international leader in treating and investigating Morquio syndrome (a rare genetic disease), he runs the Morquio A (MPS IVA) registry and has published 120 papers in the last decade alone. Importantly, he is respected and beloved by patients and their families worldwide for giving a voice and face to their disease, hosting five family-focused conferences at Nemours Children’s.
Through a five-year $3 million National Institutes of Health (NIH) R01 grant, he will further efforts to understand the natural clinical history of Morquio A. This study brings together 17 other Nemours Children’s scientists and clinicians as co-investigators, including cardiologists, radiologists, anesthesiologists and other orthopedic specialists, with an aim to provide information on how pathology progresses across various organs and age — critical knowledge for the evaluation of new therapies.
“Nemours Children’s is the only place in the world that knows how to fully treat and investigate Morquio syndrome in the clinic, operating room and research lab.”
Maria McClellan, Morquio advocate