Grant: Project Grant

Leukodystrophies are a group of genetic diseases affecting previously healthy children, leading to progressive disabilities and death over months to years. Unfortunately, no curative treatment is available for most of these children, a situation only exacerbated by the fact that an estimated 20-30% of patients remain without a precise diagnosis despite extensive clinical testing. Finding the cause of these diseases, the erroneous gene, is the first step towards finding a cure. Leukodystrophies are characterized by abnormalities in the white matter of the brain, whose main component, the myelin, is needed to insulate brain cells (neurons), protect them, and allow fast electrical conduction necessary in the nervous system. Leukodystrophies are classified as hypomyelinating (lack of myelin formation) and non-hypomyelinating (unhealthy myelin) based on distinguishing features seen in brain scans. This research project focuses on identifying new genes that cause hypomyelinating leukodystrophies and understanding how errors in these genes lead to disease. Children with these errors in these genes develop progressive difficulties that affect their walking, talking, swallowing, and reduce their quality of life. This project will allow patients and their families to have a proper diagnosis, one of the most important tools to obtain proper genetic counselling and make family-planning decisions, as well as open the door for the discovery of treatments.