Whole genome sequencing to identify novel loci in French-Canadian ALS patients

DNA is a complex molecule containing a sequence of genes that act as the master code for building and maintaining living things. Changes in the sequence are not necessarily harmful, but a small percentage of gene mutations can result in diseases like cystic fibrosis, Huntington’s disease and ALS. Using a technology called exome sequencing that uses human blood samples to examine specific sections of DNA, scientists have discovered several genes and genetic mutations related to ALS. Newer technology, called whole genome sequencing, has provided scientists with the ability to examine the complete set of DNA, known as the genome, instead of just the sections that carry protein instructions.

ALS Canada is leading Canada’s participation in Project MinE, a multinational initiative to create an open-access database of the full DNA profiles of people living with ALS that researchers around the world can use to look for insights. In this project, Jay Ross, a PhD student in Dr. Guy Rouleau’s lab at McGill University, will analyze whole genome sequencing data from the Project MinE database for a group of French Canadians living with ALS to look for new areas of genetic mutations that make some people more susceptible to developing the disease. Additionally, he will investigate how the mutations influence disease processes at the cellular level, which may lead to the identification of new targets for potential drug treatments.