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Lead investigator

Collaborators & Co-Investigators

• Dr. Cam-Tu Nguyen, MD
• Dr. Benjamin Ellezam, MD, PhD
• Dr. Jean-Denis Brisson, MD

Research Sites & Affiliations

• CHU Sainte-Justine, Montreal, Quebec
• Hôpital de Chicoutimi, Chicoutimi, Quebec

Budget: $100,000

Disorders: Hereditary Myopathies

Research Areas: Understand Diagnosis and Disorder Progression

Abstract: 

Variability in the characteristic symptoms of a disorder or phenotype is observed in many diseases and neuromuscular disorders are not an exception. In many cases the spectrum of how these disorders present is an obstacle to our understanding the causes and thus is hindering the development of valuable treatments. RYR1-related disorders are a good example of extremely variable neuromuscular disorders with phenotype ranging from a severe neonatal myopathy to malignant hyperthermia susceptibility. Our study cohort, composed of individuals carrying the same novel RYR1 heterozygous missense variant and extremely diverse phenotype, represents a unique and powerful example of the variable expressivity associated with RYR1 mutations. This cohort is therefore ideal for investigating the molecular causes of this phenomenon. We are proposing to look at transcriptomic and epigenomic signatures that could be associated with variability.

Our findings will hold the potential to improve diagnosis, help evaluate disease progression, offer a better risk management to patients and ultimately lead to new therapeutic avenues.

Impact: