Mark Tarnopolsky

Division of Neuromuscular & Neurometabolics

Message from Division Head, Mark Tarnopolsky

The mandate of the Division of Neuromuscular & Neurometabolics is to provide comprehensive care for patients with neuromuscular and neurometabolic conditions. We have a basic and translational science research focus that supports our therapy development and we are involved in Phase 3 human clinical trials and genetic discovery research collaborations. A unique aspect of our clinic and research program is that we provide and support care across the lifespan. 

Overview

We strongly feel that obtaining an accurate diagnosis and careful attention to many small details can enhance the lives of patients with neuromuscular and neurometabolic disorders even in the absence of a “cure”. Thus, we have a strong emphasis on being at the cutting edge of genetic diagnostics and therapy development (including gene therapies) but also strongly emphasize the importance of exercise and nutritional interventions.   

A major tenet of our clinic is that we are based upon a strong scientific background and we strive for academic excellence to enhance patient care in the area of neuromuscular and neurometabolic disorders. Consequently, we overlap between research and clinical care across all levels of scientific discovery from pre-clinical models (i.e., cell culture with patient cells, murine models of disease) all the way to Phase 3 clinical trials (i.e., Pompe disease, Duchenne muscular dystrophy, Friedreich ataxia, mitochondrial disease).  

Faculty Directory

Staff Directory

Placeholder portrait image for Cheryl Brightman

Cheryl Brightman

Divisional Assistant

brightmc@mcmaster.ca

Education

Our clinic and integrated research programs support students at all levels of training. We have undergraduate students who have been involved in laboratory research and have completed case reports and case series projects. We have provided training opportunities for genetic counseling residents completing clinical rotations and doing master degree theses.

Our laboratory and clinical trial research programs are supporting the education of graduate students (MSc, PhD) and postdoctoral fellows. Our clinic provides training opportunities for residents in pediatric neurology, adult neurology, physical medicine rehabilitation, and developmental pediatrics. We often have a clinical fellow specializing in neuromuscular and neurometabolic disorders attending the clinic and frequently have visiting students from other countries in the laboratory (i.e., Belgium, Brazil, USA). Our clinical research program has also been a source of research opportunities and research material for university programs in biomedical sciences, biochemistry, and kinesiology. 



Clinical

Our clinic provides inpatient and outpatient support for patients with known or suspected neuromuscular or neurometabolic disorders. We work closely with the neonatal intensive care unit (NICU), pediatric intensive care unit (PICU), pediatric neurology, general genetics and metabolics and the spasticity clinic to support and complement each other given overlapping interests.  

The main areas of interest and expertise include: metabolic myopathy (mitochondrial disorders, fatty acid oxidation defects, glycogen storage disease), genetic myopathy (Duchenne, limb-girdle, FSHD, myotonic), acquired myopathy (rhabdomyolysis, polymyositis, dermatomyositis, IBM, toxic/drug induced), neurogenetic disorders (spinocerebellar ataxia, hereditary spastic paraparesis, Friedreich ataxia, pediatric neuropathies including spinal muscular atrophy), and diagnosis for complex neurodegenerative and neurodevelopmental disorders. Julia Frei provides developmental pediatric support for children with the aforementioned disorders. 



Research

Our basic science focus is to better understand the molecular and physiological aspects of mitochondrial dysfunction and muscle atrophy/weakness with the ultimate goal of therapy development to treat these disorders. This work spans the areas of pre-clinical work (i.e., cell culture and murine models of mitochondrial disorders and muscular dystrophy) to small scale translational human studies (i.e., exercise training in myotonic MD type 1) and is completed mainly by research trainees, post-doctoral fellows, and a senior technician. The basic and translational work is supported by a Canadian Institutes of Health Research (CIHR) Foundation grant awarded to Mark Tarnopolsky.  

One aspect of clinical work involves gene discovery for neuromuscular and neurometabolic disorders using whole exome sequencing, whole genome sequencing, RNA sequencing, and epigenetic testing. Lauren Brady is the coordinator of this effort as part of national consortia (i.e., Care4Rare-SOLVE, EpiSign). A second clinical area is participation in phase 3 clinical trials in: Duchenne MD; hereditary inclusion body myopathy; mitochondrial disease; Friedreich ataxia; and Pompe disease which is coordinated by Erin Hatcher. 



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