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TOPICAL COLLECTIONS

Translational Research in Neuromuscular Disorders
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Samuel Mackenzie

Samuel Mackenzie

University of Rochester Medical Center

Dr. Samuel Mackenzie is a physician-scientist specializing in the development of therapies for genetic neuromuscular conditions that affect children. He leads active research programs focused on myotonic dystrophy, Duchenne muscular dystrophy, and TANGO2 deficiency disorder. Additionally, he is a strong advocate for patients with various other conditions, including spinal muscular atrophy and facioscapulohumeral muscular dystrophy. Dr. Mackenzie is an assistant professor of neurology at the University of Rochester Medical Center, where he also holds secondary appointments in Pediatrics, Neuroscience, and the Center for Health and Technology. Before joining the faculty at Rochester, he completed a neuromuscular fellowship at Nationwide Children’s Hospital and The Ohio State University, as well as a child neurology residency at the University of Michigan. He currently chairs the Scientific Advisory Board of the TANGO2 Research Foundation.

Collection Overview

Neuromuscular disorders encompass a broad range of inherited and acquired diseases that affect motor neurons, peripheral nerves, neuromuscular junctions, and muscle. Despite significant advances in diagnostics and supportive care, effective treatments remain limited for many conditions, though in recent years, rapid progress in genetics, molecular biology, and bioengineering has accelerated our understanding of these diseases and has helped us translate key discoveries into potential therapeutics.


This collection highlights the diversity in model systems and analytic strategies used in research on neuromuscular disorders, bridge the gap between bench and bedside. We welcome methods-based studies and original research exploring disease mechanisms, therapeutic targets, and biomarker discovery across various neuromuscular conditions, including motor neuron diseases, muscular dystrophies, myopathies, and peripheral neuropathies. Studies using animal models, iPSC-derived systems, organoids, and computational approaches are also encouraged, as are those employing gene therapy, RNA-based therapeutics, cell-based treatments, and small molecules. By bringing together work spanning models and methodologies, this collection aims to foster cross-talk between basic scientists and clinician-investigators, ultimately accelerating the development of more effective therapies for patients with neuromuscular disease.

Articles

Single Fiber Isolation Assay for the Assessment of Oxidative Myofiber Behavior
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Single Fiber Isolation Assay for the Assessment of Oxidative Myofiber Behavior

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2026

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