Anna van Hofslot

In 2022, I graduated with a Biomedical Sciences master’s degree from Leiden University. I recently started working as a PhD candidate at Maastricht University. I will work on WP2 of the CureQ project, at the MUMC+ in Maastricht and the LUMC in Leiden. The main objective of our research is deep phenotyping participants with different CAG repeat lengths in the Huntingtin (HTT) gene. We will focus specifically on carriers of intermediate alleles (IA), and patients with early-onset Huntington’s Disease (HD), including juvenile-onset Huntington’s Disease (JoHD), generally having 27-35 CAG repeats or more than 55 repeats, respectively. In order to deep phenotype the participants, we will measure clinical outcomes, and multiple potential biomarkers in blood, cerebrospinal fluid (CSF), and Magnetic Resonance Imaging (MRI). We will follow these participants for three years, with yearly measurements. We aim to find biomarkers that are sensitive to change over time. We also expect to find differences in these biomarker changes between the different groups. In addition, we will provide donor cells for WP 1, 3 and 4. These donor cells will be reprogrammed into induced pluripotent stem cells (iPSCs) to generate patient-derived disease models from fully phenotyped participants. In preparation of this project, I am working on a scoping review towards currently known clinical and biological evidence of HD onset in IA carriers. Furthermore, I am contributing to a study on assessing the state of the blood-brain-barrier (BBB) in HD patients, using ultra-high field MRI. This study will provide 7 Tesla MRI data, which will be compared to the 3 Tesla MRI data that we will obtain from the CureQ project.