Congenital myasthenic syndromes

Microscopy image of a neuromuscular junction

…exome sequencing, and part of our research focuses on gene discovery to solve these remaining unsolved cases through the latest genome sequencing and multi-omics approaches. In many cases the pathomechanisms…

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Meet the lab’s three new members

…in neuromuscular disorders and neurogenetics. His PhD work involved developing next generation sequencing (NGS)-based tests for detection of both copy number variations and point mutations in Duchenne Muscular Dystrophy. He…

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Malaichamy Sivasankar

…Molecular Medicine at the University of Ottawa under the supervision of Dr. Lochmüller, where he is elated to research on exploring novel genes and mechanisms implicated in undiagnosed neuromuscular disorders….

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