Grant: Project Grant

Hypomyelinating leukodystrophies (HLDs) are a group of neurological genetic disorders in which the white matter regions of the brain are profoundly affected. HLD causes developmental delay, cerebral palsy and impaired cognition, impacting the quality of life of affected people and their families. There is currently no treatment for this condition. Mutations in a protein called claudin-11 were recently shown to cause HLD, but we do not understand the disease processes involved. This project is focused understanding how mutant claudin-11 causes HLD and finding ways to treat it. We aim to accomplish this using cells derived from patients affected by this disease as well as mice that have been modified to carry the same genetic changes as the patients. Our goals are to study the changes in these cells and mice, understand the way by which the disease develops, and devise and test possible treatments. This project will help us better understand HLD and lead to better treatments for this devastating disease.