Marjo van der Knaap is an adult and pediatric neurologist at Amsterdam UMC since 1991. She is head of pediatric neurology. In 2000 she founded the Amsterdam Leukodystrophy Centre, where patient care is combined with fundamental, translational and clinical research. In 1995 she first described MLC. In 2001 her group found the first gene associated with MLC: MLC1. In 2010 she described remitting MLC. In 2011 her group and the group of Raul Estévez published a collaborative paper on the identification of the second gene associated with MLC: GLIALCAM. In 2023, she and Rogier Min published AQP4 and GPRC5B as novel genes associated with MLC. Together with Rogier, she continues to work on MLC pathophysiology and therapy targets. In 2023, she initiated an international consortium of clinical experts for MLC (the MLC consortium) aiming at trial readiness and started an MLC patient registry.
