Samuel J. Mackenzie

Samuel J. Mackenzie, M.D., Ph.D., is an Assistant Professor in the Department of Neurology at the University of Rochester School of Medicine and Dentistry (SMD). He holds joint appointments in the Center for Health and Technology, Department of Neuroscience, and Department of Pediatrics. Dr. Mackenzie specializes in pediatric neuromuscular disorders, with expertise in neuromuscular electromyography and nerve conduction studies. His research focuses on translating gene-based therapies for rare diseases such as myotonic dystrophy and TANGO2-deficiency disorder. He actively contributes to clinical trials, including a phase III trial for microdystrophin gene therapy in Duchenne Muscular Dystrophy.

Education:

• Bachelor's degree from Cornell University
• Master's in Exercise Science from University of Delaware
• MD and PhD from SUNY Upstate Medical University
• Pediatric Neurology Residency at University of Michigan
• Neuromuscular Medicine Fellowship at The Ohio State University

Research Interests: Dr. Mackenzie's work integrates clinical care and basic science to advance treatments for neuromuscular disorders. Key areas include RNA-targeted oligonucleotides for myotonic dystrophy, B-vitamin supplementation strategies for TANGO2 deficiency, and genotype-phenotype correlations in rare genetic conditions. His NIH-funded projects explore mechanisms of lipid imbalance in TANGO2-related disorders.

Awards & Grants: Recently secured NIH-NINDS funding for RNA-targeted therapies. Sub-investigator on a phase III gene therapy trial. Recognized for clinical excellence with 4.9/5 patient ratings for empathy, communication, and care quality.

Labs & Teams: Leads the Neuromuscular Electromyography Lab at UR Medicine. Collaborates across disciplines through the Center for Health and Technology to develop innovative diagnostic tools and care pathways.