The project
The Amsterdam Leukodystrophy Center offers a PhD position for 4 years. The Center comprises a multidisciplinary research group, composed of child neurologists, neuropathologists, molecular and cell biologists, technicians, PhD students and graduate students. The research area mainly focuses on clinical signs, MRI/MRS, genetics, neuropathology, electrophysiology and molecular and cellular aspects of leukodystrophies, and on developing potential curative therapies, including gene therapy.
More information on our research can be found at our website . Vanishing white matter is a central research subject of the Center, approached from different sides. The current project is mainly focused on the clinical aspects and on being ready for trials when therapy developments allow testing in patients.
About your role
This new research project focuses on Vanishing White Matter (VWM). VWM is a rare inherited disease affecting the brain white matter (a so-called 'leukodystrophy'), caused by mutations in any of the five genes encoding subunits of the translation initiation factor eIF2B. It is a devastating disease with chronic and episodic neurological deterioration, most often starting in early childhood. VWM is fatal and there is no curative therapy available.
Recently, several options for therapy have been identified and the first clinical trials are being developed. In order to facilitate international trials, the Amsterdam patient registry needs to become an international registry and the natural history of VWM needs to be well documented. Scales to serve as outcome measures need to be validated.
Key responsibilities:
- Perform a natural history study;
- Identify appropriate key outcome measure using strategies aiming at international consensus;
- Perform patient and family surveys.
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