Welcome to the Mackenzie Lab

The Mackenzie Lab is a pediatric neuromuscular research group at the University of Rochester dedicated to understanding and treating rare genetic diseases of the nervous system and muscle. Our work spans three core programs: myotonic dystrophy type 1 (DM1), where we study repeat-length-dependent epigenetic changes and their relationship to disease severity, test novel therapeutics, and explore CNS phenotypes in a novel mouse model of the disease (collaboration with the Thornton lab); Duchenne muscular dystrophy (DMD), including gene therapy approaches and ACE-tRNA suppression strategies (collaboration with the Lueck lab); and TANGO2 deficiency disorder, where we combine data from model organisms with that from human patients to identify novel diagnostic biomarkers and improve outcomes.

A unifying thread across our programs is improving the lives of individuals with genetic muscle disorders. Our lab combines our basic science work with direct clinical care in pediatric neuromuscular medicine, allowing us to bidirectionally move findings between the bench and the clinic.

We are grateful to all of the patients, families, and collaborators who make this research possible.

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