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Samuel J. Mackenzie, M.D., Ph.D.

(Pronouns: he/his/him)

Contact Information

Phone Numbers

Appointment: (585) 276-3000

URMFGA member of the University of Rochester Medical Faculty Group

groupAn Accountable Health Partner

assignmentAccepting New Patients

Faculty Appointments

Patient Care Setting



Professional Background

I completed my undergraduate studies at Cornell University before earning a Master's Degree in exercise science at the University of Delaware and my MD-PhD at SUNY Upstate Medical University. I completed residency in child neurology at the University of Michigan and fellowship in neuromuscular medicine at The Ohio State University and Nationwide Children's Hospital.


I am a physician-scientist with clinical and research interests in pediatric neuromuscular disorders. My overall research goals involve bringing novel gene-based therapies to patients with rare conditions through a variety of basic and translational approaches. I have particular interests in myotonic dystrophy and a rare condition known as TANGO2 deficiency syndrome but am also involved in projects related to Duchenne muscular dystrophy, spinal muscular atrophy, and various other neuromuscular diseases.



MD, PhD | SUNY Upstate Medical Center

Post-doctoral Training & Residency

07/01/2020 - 06/30/2021
Fellowship in Neuromuscular Disease at Ohio State University College of Medicine

07/01/2017 - 06/30/2020
Residency in Pediatric Neurology at University of Michigan Medical School-GME

06/30/2015 - 06/30/2017
Internship in Pediatrics at University of Michigan Medical School-GME

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Journal Articles

Powell AR, Ames EG, Knierbein EN, Hannibal MC, Mackenzie SJ. "Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA)." Pediatric neurology.. 2021 Jun 0; 119:34-39. Epub 2021 Mar 08.

Mackenzie SJ, Lin CC, Todd PK, Burke JF, Callaghan BC. "Genetic testing utilization for patients with neurologic disease and the limitations of claims data." Neurology. Genetics.. 2020 Apr 0; 6(2):e405. Epub 2020 Feb 26.

Mackenzie SJ, Yi JL, Singla A, Russell TM, Osterhout DJ, Calancie B. "Cauda equina repair in the rat: Part 3. Axonal regeneration across Schwann cell-Seeded collagen foam." Muscle & nerve.. 2018 Jan 0; 57(1):E78-E84. Epub 2017 Aug 13.

Books & Chapters

Chapter Title: Factors affecting motor development
Book Title: Introduction to Human Motor Development
Author List: Getchell, N., Wei, H., and Mackenzie, S. J.
Published By: People's Education Press 2008