I am a cell biologist at Amsterdam UMC (location AMC), Amsterdam, the Netherlands. I completed my biomedical sciences study in 1996 with an internship in London where I coupled a fluorescent protein to the main cellular protease involved in protein degradation, which started my research interest in using advanced microscopy to study protein degradation in health and disease.
Following my PhD at the Netherlands Cancer Institute working on protein degradation and the immune system, I met Nancy Wexler who discovered the HD gene in 1993 and scouted for researchers to join the HD research community. Meeting HD patients and funding for exploring protein degradation in HD in 2004 ignited my research interest in improving selective mutant huntingtin degradation.
My research group at Amsterdam UMC (location AMC) focuses on lowering mutant huntingtin by improving its degradation as a therapeutic strategy to prevent or delay onset of Huntington’s Disease.
To lower the mutant huntingtin protein we use different strategies, including small molecule compound screening, and examining and manipulating targeting of huntingtin to the degradation machinery. I am chair of the Dutch HD research network, organizing national meetings with Mayke Oosterloo, Harm Kampinga and Willeke van Roon-Mom. The national and international HD research community is unique with devoted scientists openly working together to find a cure for HD.
The change in focus by the former Prinses Beatrix Foundation had a big impact on HD research funding, and let to the foundation Campagneteam Huntington, an awareness campaign www.doodgezwegen.nl and raising money for research. As board member, I assist in layman presentations for the general public, HD families and specific events, while vice versa these interactions with the HD families being very motivating for scientists.
Recent challenges in the field led to the initiation of two research consortia. On the one hand, the need for advanced imaging technologies to image HD related processes in organoid models, AI tools for fast data analysis, and large compound screen setups resulted in the national consortium NL-BioImaging that was awarded early 2023 (www.microscopy.nl). On the other, patient-derived cell models to validate new strategies for HD as well as to improve determination of the age-of-onset, are needed to determine a proper window for starting therapy prior to disease onset. This can only be achieved at the national level with Dutch scientists, neurologists, biotech, patient foundations and applied universities, and the proposed consortium CureQ was awarded in 2022. As chair of CureQ I am involved in various WPs including WP1 (generating isogenic models), WP4 (validating therapeutic strategies), WP5 (data analysis) and WP7 (outreach).