Assistant Professor | Team leader
Department of Child Neurology (Amsterdam UMC) &
Department of Integrative Neurophysiology (VU University)
AMC campus, office IWO-A038 | Meibergdreef 29, 1105 AZ Amsterdam
T: +31(0) 6 33333641
E: r.min@amsterdamumc.nl
W: https://inf.cncr.nl/research_teams/glial_pathophysiology/
Studying MLC has been a focus of researchers at the Amsterdam Leukodystrophy Center (ALC) for the past 30 years. The ALC is headed by Prof. Marjo van der Knaap, child neurologist and world leading expert on leukodystrophies. She saw her first MLC patient in 1991 and has studied the disease since then. Her key discoveries on MLC include the identification of MLC1 (in 2001) and GLIALCAM (in 2011) as genes defective in most MLC patients, and the discovery that the process of volume regulation is disrupted in the MLC brain. The ALC maintains a close collaboration between clinic and lab. Working with MLC patients and families leads to the identification of unmet needs, for instance concerning the genetic cause of the disease and openings for treatment. Studying the MLC patient population also provides unique new disease insights. Observations and questions are translated into fundamental laboratory studies using MLC patient cells and mouse models of the disease. In 2016, Dr. Rogier Min joined the ALC team, and currently leads the lab work on MLC. Min is a cell biologist trained in electrophysiology and advanced live cell imaging. By combining studies on cell physiology with insights from the clinic, the ALC team aims to better understand disease mechanisms and identify therapeutic opportunities. Ultimately, the aim of these laboratory studies is to help develop the urgently needed MLC therapy and bring it to the clinic.
