• 2016 – present PhD Candidate Amsterdam UMC, VU Medical Center, NL
• 2013 – 2016 MSc in Neuroscience & Cognition, University of Utrecht, NL
• 2010 – 2013 BSc in (Neuro) Psychology, University of Utrecht, NL
Vanishing White Matter (VWM) is one of the most common leukodystrophies and is caused by a mutation in any of the genes encoding for the five subunits of eIF2B, a protein important in the initiation of translation of mRNA into protein. Although eIF2B is a housekeeping gene, exclusively glial cells in the CNS are affected, with astrocytes driving the loss of white matter. Patients present with progressive motor defects, neurological deterioration, and premature death in children. No curative therapy is available at present; treatment is supportive only. My PhD project aims to develop a gene therapy for VWM through the use of various strategies, including CRISPR-Cas9 technology.
• Leferink, P.S.*, Dooves, S.*, Hillen, A.E.J. *, Watanabe, K., Jacobs, G., Gasparotto, L., Cornelissen‐Steijger, P., van der Knaap, M.S. & Heine, V.M. (2019). Astrocyte Subtype Vulnerability in Stem Cell Models of Vanishing White Matter. Ann Neurol, 86: 780-792. https://doi.org/10.1002/ana.25585
• Hillen, A.E.J. & Heine, V.M. (2020). Glutamate Carrier Involvement in Mitochondrial Dysfunctioning in the Brain White Matter. Front. Mol. Biosci., 7: 151. https://doi.org/10.3389/fmolb.2020.00151
Vrije Universiteit Amsterdam
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