Marjo van der Knaap trained in adult and pediatric neurology and in neuro-MRI. In 2000, she founded the Amsterdam Leukodystrophy Center, in which patient care and clinical and basic research are integrated. She is professor and head of Child Neurology of the Emma Children’s Hospital / Amsterdam University Medical Center and professor of Translational Neurosciences, Vrije Universiteit Amsterdam. 

Since 1987, her research is focused on white matter disorders, especially genetic disorders (“leukodystrophies”). She developed MRI pattern recognition to facilitate diagnostics and subsequently applied it to define novel disorders. Newly defined disorders include vanishing white matter (VWM), megalencephalic leukoencephalopathy with subcortical cysts (MLC), Leukoencephalopathy with Brainstem and Spinal cord involvement and Lactate elevation (LBSL) and several others. Her group identified numerous mutated genes for newly defined leukodystrophies. Further studies of her group focus on pathomechanisms and in the most recent years on therapy development. Her group identified the favorable effects of Guanabenz, an antihypertensive drug, on VWM. In 2021, she started the first therapeutic clinical trial in VWM using Guanabenz.

She is co-author of the book Van der Knaap MS, Valk J. Magnetic resonance of myelination and myelin disorders. Springer, 1989, 1995 and 2005, an international standard. She co-authored over 450 peer-reviewed papers in international scientific journals. She received several awards, including ISMRM gold medal (1999), Winkler medal of the Dutch Society of Neurology (2000), ASNR honorary membership (2001), ICNA Prichard award (2002), AAN Sidney Carter Award (2008), Dutch Spinoza award (2008), ASPNR gold medal (2014) and EPNS Aicardi award (2022). She is member of the Dutch Royal Academy of Sciences (since 2010).

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