Interview with Dr. Samuel Mackenzie, both Medical Doctor and Ph.D. holder

New Researcher at the University of Rochester Pursues Novel Approach to Myotonic Dystrophy

Samuel Mackenzie, M.D., Ph.D., has joined the University of Rochester as a senior instructor in Neurology and Neuroscience at the Del Monte Institute for Neuroscience, starting in July 2021. Mackenzie's research interests lie in the development of gene-targeted therapies for neuromuscular diseases, a passion that was sparked during his Masters at the University of Delaware.

Mackenzie is currently collaborating with Charles Thornton, M.D., on a research project focused on myotonic dystrophy. The research project aims to make a novel mouse model of myotonic dystrophy and to reverse some of the disease manifestations in this mouse by treating it with a promising therapeutic compound.

Mackenzie appreciates the complexity of human movement and is fascinated by the process of how a thought in the brain manifests as a physical action. This fascination led him to join the University of Rochester due to the strong support for his work and the combination of robust clinical enterprise in neuromuscular medicine and neurology, as well as cutting-edge research.

Samuel Mackenzie completed his child neurology residency at the University of Michigan and a neuromuscular fellowship at The Ohio State University and Nationwide Children's Hospital. His work has been recognised with a K12 career development award from the NIH, which he recently received to characterize the novel mouse model he is developing with Thornton.

The first systemic gene therapy for spinal muscular atrophy, approved by the FDA during Mackenzie's residency, has significantly improved the lives of children with the condition. Early diagnosis and treatment of spinal muscular atrophy can allow children to live relatively normal lives. Mackenzie's work in this field could potentially lead to similar breakthroughs for myotonic dystrophy.

Mackenzie is passionate about ensuring his research has meaning and finding joy in his work. He is also keen on forming collaborations across disciplines at the University of Rochester to further his research and make a significant impact in the field of neuromuscular diseases. As he continues his work on myotonic dystrophy, we eagerly await the outcomes of his research and the potential advancements it may bring.