$75,000 awarded to Rahul Kumar , a Ph.D. student in Dr. Peter McPherson ’s lab at the Montreal Neurological Institute at McGill University.
In 2011, scientists discovered that mutations in a gene called C9ORF72 are the most common genetic cause of ALS. People with these gene mutations make less of the normal C9ORF72 protein, but also have more toxic substances in their motor neurons.
Exactly how C9ORF72 mutations cause ALS remains unknown. Some researchers believe the main issue is the loss of normal protein function in motor neurons, while others believe toxic substances aggregating in the nucleus and cytoplasm cause problems.
Through an initiative called the ALS Reproducible Antibody Platform, co-funded by ALS Canada, the ALS Association (US) and the MND Association (UK), a 2016 ALS Canada Trainee Award recipient, Dr. Carl Laflamme discovered that methods used to detect C9ORF72 protein in some previous studies were not correct. Using new methods, he found that C9ORF72 protein was very concentrated in blood cells called macrophages, white blood cells that engulf and digest cellular debris.
For this project, Rahul Kumar will perform a set of experiments to find evidence for the loss of function theory by studying blood macrophages from people living with ALS. He will examine the levels of C9ORF72 protein using blood samples donated by families with familial ALS and investigate how C9ORF72 in macrophages affects the normal movement of substances inside cells, a proposed normal function for this protein.
If the loss of normal function of C9ORF72 protein is essential in ALS disease processes, that insight will provide important information for developing new ALS treatments in the future.