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AANS Neurosurgeon | Volume 27, Number 4, 2018


In Neuromuscular Disease, Intersection Between Big Data and Therapeutic Pipeline Will Be Life Changing for 250,000 Patients

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Neuromuscular diseases encompass a broad group of disorders that are individually rare but collectively impact an estimated 250,000 patients in the United States, breaking the rare disease threshold of 200,000. Currently, treatment options for these diseases are limited. But the financial impact is staggering, with costs related to neuromuscular disease exceeding $46 billion dollars annually.

A new report, “Understanding Neuromuscular Disease Care,” funded by the Muscular Dystrophy Association (MDA) and released by the IQVIA Institute for Data Science, shows that advancements in genetic testing and precision medicine will radically alter the course of neuromuscular disease within the next decade. The report illuminates the role that big data technologies will play in revolutionizing the importance of newborn screening, early genetic testing, intervention and treatment as pathways to accelerating new therapies. The advent of MDA’s comprehensive data hub, MOVR, is also driving the advancement of research, new technologies and care strategies to galvanize both the industry and research arenas to pioneer better care and more cures.

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