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Regulation of endosomal membrane trafficking by C9ORF72 in ALS

Principal Investigator:
  • Peter McPherson, McGill University
  • ALS Society of Canada

Project Overview

Dr. Peter McPherson, professor at the Montreal Neurological Institute, McGill University will receive one year of support to work on the connection between the most prominent known cause of ALS, a mutation in a gene called C9ORF72, and a previously unrelated critical cellular function called endosomal membrane trafficking. Endosomal membrane trafficking is a cellular process used to transfer substances to and from the surface of cells, as well as inside and out of cells. One of the earliest discoveries about C9ORF72 protein is that it contains something called a DENN domain, which is a structure first identified in the McPherson lab as important in endosomal membrane trafficking. Preliminary studies by Dr. McPherson have shown that C9ORF72 can interact with a prominent trafficking substance called Rab9 and in this project he will further pursue a role for C9ORF72 in the process, including in motor neurons created from induced pluripotent stem cells derived from people living with ALS. Dr. McPherson was also awarded a one year Bridge Grant for this study in September, which represents a small portion of the funds requested by CIHR to complete the project. In light of the selection of this work for its novelty and forward thinking by the ALS Canada-Brain Canada International Peer Review Panel, this Discovery Grant was awarded to provide additional support towards that initial goal.