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View The Department of Neurology research page
Remarkable research advances in molecular genetics during the past 15 years have had a dramatic impact on our understanding of neuromuscular diseases. The gene locus and the missing or defective gene product is now known for many of these conditions.
One of these conditions is Spinal Muscular Atrophy. In collaboration with top researchers at Columbia University, NY, and Children's Hospital of Philadelphia, Basil T. Darras helped establish the Pediatric Neuromuscular Clinical Research Network. The goal of this network is to advance research in Spinal Muscular Atrophy in the Northeast.
With the goal of offering a medication trial in the near future, the group is currently running a natural history study which is crucial to understand the natural course of the condition and the tools used to study changes in individuals with SMA.
In addition to his research in Spinal Muscular Atrophy, Dr. Darras collaborates with researchers in the genetics department to help better characterize, diagnose and treat Duchenne/Becker muscular dystrophy, other muscular dystrophies and congenital myopathies. Other lead researchers in these conditions include: Louis Kunkel, PhD, Alan Beggs, PhD, Peter Kang, MD and Elizabeth Engle, MD.
Dr. Darras, along with other members of the Neuromuscular Program, recently described a diagnostic approach to a condition known as arthrogryposis and also a novel association between Duchenne/Becker muscular dystrophy and autism spectrum disorder.
Find out more about our research and clinical studies:
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