Associate Professor, Department of Human Genetics, Department of Neurology and Neurosurgery, Department of Pediatrics
My research focuses on neurodegenerative disorders in children with a special focus on leukodystrophies, a group of inherited white matter diseases of the brain. My research team is investigating the clinical and imaging characteristics of these diseases along with their genetic causes. Recently, my colleagues and I discovered three genes responsible for causing a subset of leukodystrophies called POLR3-related leukodystrophies. To build on these key findings, my laboratory is working on the identification of new forms of leukodystrophies and on characterizing the newly described POLR3-related subset. Our research program is expanding to include perspectives from the study of epidemiology, natural history, and quality-of-life impacts, with the ultimate objective of improving care for children and families who face the serious challenges associated with this disease group.