Characterization of the cell biological function of the ALS gene C9ORF72

In 2011, the most common genetic cause of ALS (and frontotemporal dementia) was discovered, identified as an abnormality in a gene called C9orf72. Prior to that, researchers did not know of C9orf72 and a great deal of effort has been put forth to understand what its function is so that we might understand how a mutation could cause the disease. One of the first aspects discovered about C9orf72 was that it contains something called a DENN (differentially expressed in normal and neoplastic cells) domain, which means it is capable of altering function of substances called Rabs. Rabs are key factors in the shuttling of important pieces to our cellular health between the surface of cells and the site of their action, and improper Rab functioning could cause many important processes to be disrupted. DENN domains were discovered in the laboratory of Dr. Peter McPherson at the Montreal Neurological Institute, McGill University.

ALS Canada is pleased to announce that the 2016 Ronald Peter Griggs Memorial Postdoctoral Fellowship in ALS Research was awarded to Dr. Carl Laflamme, who will study this function of C9orf72 as a potential mediator for membrane trafficking. Dr. Laflamme’s preliminary evidence has already demonstrated that C9orf72 controls the function of a specific Rab (Rab9), which already provided some crucial information as to C9orf72’s importance in the normal functioning of motor neurons and other cell types affected in ALS. As Dr. Laflamme further unravels these mechanisms, it is likely that new therapeutic targets will emerge that could be developed to make ALS a treatable disease.