Marjo van der Knaap trained in adult and pediatric neurology and neuro-MRI. In 2000, she founded the Amsterdam Leukodystrophy Center, in which patient care and research are integrated. She is professor of Child Neurology, Emma Children’s Hospital / Amsterdam University Medical Center and professor of Translational Neurosciences, Vrije Universiteit Amsterdam. Since 1987, her research is focused on leukodystrophies, genetic disorders of the brain white matter. She developed MRI pattern recognition to facilitate diagnostics in leukodystrophies and applied it to define numerous novel leukodystrophies, including vanishing white matter (VWM). She and her group identified numerous mutated genes for newly defined leukodystrophies, including VWM. Further studies focus on pathomechanisms and therapy development. She and her group identified the favorable effects of Guanabenz, a repurposed antihypertensive drug, on VWM. She initiated the first therapeutic clinical trial in VWM patients using Guanabenz. She received numerous (inter)national awards and is member of the Dutch Royal Academy of Sciences.
