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Characterizing the C9ORF72 protein interactome for identifying novel pathogenic pathways in ALS

Principal Investigator:
  • Janice Robertson, University of Toronto
  • ALS Society of Canada

Project Overview

In late 2011, a landmark discovery was made which identified that abnormalities (mutation) in a gene called C9ORF72 were responsible for the highest percentage of hereditary ALS and frontotemporal dementia cases. Since then, a lot of work has been done to understand how these mutations cause disease. In particular, researchers are still trying to understand the normal function of the C9ORF72 protein that is coded by this gene and a grasp on its importance to cells like motor neurons might provide important clues about ALS and how to treat it. In this project, Dr. Robertson’s group will utilize cutting-edge techniques and novel, specially designed biological tools to examine what other proteins interact with C9ORF72 protein in a way never been done before. By determining which proteins interact with the mutant and/or non-mutant form, new processes will be identified that are important to C9ORF72’s normal function and will shed light on what processes might be disrupted in ALS so that they may be targeted for therapy.