I’m a neurologist at Leiden University Medical Center (LUMC), specialized in movement disorders and in particular Huntington’s disease (HD).
I completed my studies and training as a neurologist at the Vrije Universiteit Amsterdam, at Queen Square London, UK and Radboud University Medical Centre, respectively, where I also followed a Movement Disorders Fellowship and where I obtained my PhD in the field of Neurogenetics. In 2016, I continued my career in Neurological Movement Disorders at the Leiden University Medical Center (LUMC). After an HD Fellowship in GHI Munster, Bochum and Ulm, Germany, in 2018, I became head of the Huntington Expertise Center of the LUMC, acknowledged by the Dutch Ministry of Health and member of ERN-RND.
In parallel with my clinical work, I am very much interested in unravelling underlying disease mechanisms. I work closely together with national as well as international fundamental & translational research groups from the Dep. of Human Genetics, Cell Biology, Pathology, and Radiology.
My aim is to conduct innovative research on clinical profiling & quality of life (e.g. studies to measure fatigue and pain, medication use & pharmacogenetics), as well as on disease course with a focus on finding clinical, fluid and radiological biomarkers, and pathophysiology (including post-mortem studies in (juvenile) Huntington’s disease together with Willeke van Roon-Mom), to support trial-readiness and the development of new therapies. Furthermore, our centre of expertise is one of the largest clinical (trial) centres for HD in Europe with more than 400 active HD-study participants included in a worldwide observational study (Enroll-HD). In addition, I am founder of the LUMC HD-biobank (with >400 donors) and the principal investigator of multiple investigator-initiated studies, EU funded (e.g. IDEA-FAST), and industry-initiated clinical trials (e.g. Proof-HD, PIVOT-HD).
Within the CureQ consortium I am the co-supervisor of Anna van Hofslot who works on the HD part of WP2, in which we use existing and generate new data on various longitudinal disease metrics of patients and carriers with SCA1, SCA3, and HD. Together with MUMC+, we will build two national HD cohorts of 1) early-onset HD (≤30 yrs at onset) and 2) carriers of intermediate expansions in the HD genes (27-35 CAG repeats), and subject these to a natural history and biomarker tracking study.