Specialization
Child neurology
Leukodystrophy
Neurogenetics
MR imaging
Clinical trials
Gene therapy
Focus of research
I work on leukodystrophies, mainly on metachromatic leukodystrophy (MLD) and hypomyelinating diseases (HLDs). Regarding MLD, I focus on disease and treatment mechanisms, using MRI, biomarkers and brain tissue. We also investigate genotype-phenotype relationships.
HLDs are a group of heterogeneous leukodystrophies, with a wide variation in clinical presentation and late, slow neurodegeneration. My research tries to understand the different presentations and process of degeneration, using advanced MR techniques and biomarkers.
In addition, better treatments of leukodystrophies are a main goal. We are conducting clinical trials, either as investigator-initiated trial (e.g. deferiprone for Pelizaeus-Merzbacher disease) or as a trial site for an industry-sponsored trial.