Grant: Project Grant

Leukodystrophies are a group of genetic diseases affecting previously healthy children and leading to progressive disabilities and death over months to years. Unfortunately, no curative treatment is available for these children, a situation only exacerbated by the fact that an estimated 30-50% of patients remain without a precise diagnosis despite multiple tests. Finding the cause of these diseases, the erroneous gene, is the first step toward finding a cure. Leukodystrophies are characterized by abnormalities in the white matter of the brain, whose main component, myelin, is needed to insulate brain cells (neurons), protect them, and allow fast electric 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 causal genes for hypomyelinating leukodystrophies and understanding why mistakes in these novel genes lead to disease. Children with these disease-causing genes develop progressive difficulties that affect their walking, talking, and swallowing, among other things. This project will allow patients and their families to have a proper diagnosis, obtain genetic counseling and make family-planning decisions, as well as open the door for the discovery of treatments.