Netherlands: PhD position in ‘Inherited Metabolic Diseases’ at AMR

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Job description

Project description: This project aims to individualize the use of costly intravenous enzyme replacement therapy (ERT) in Fabry disease (FD). FD is an X-linked lysosomal storage disorder with a wide range of phenotypes. While ERT has shown some benefit, it has become clear that not all patients respond equally. In a previous study from our center, the effectiveness and therapeutic value of ERT was investigated. A dataset on over 150 patients (75 treated) was created to construct a state-transition model including the natural course. This model showed that ERT can delay, but not prevent, the occurrence of complications. The current project uses this model to study effectiveness of ERT in subgroups of patients and to translate this into individualized treatment guidelines. To increase datasets, we will collaborate with two centers from the UK and Germany (Royal Free Hospital in London and the University Hospital in Wurzburg). The PhD student will cooperate closely with the Fabry specialists and data managers of these centers in order to build a large, comprehensive database. He or she will analyze the data with the ultimate aim to give the individualized use of ERT in FD a scientific basis.


Candidate’s profile:

– Medical Degree

– Affinity with Internal Medicine

– Fluent in English

– Excellent social skills

– Capable to work independently-

– Knowledge of Access / SPSS is an advantage.

Conditions of employment

This full-time (36 hrs/week) PhD position is offered for an initial period of 1 year which, under normal circumstances, will be prolonged to 3 years. The salary is in accordance with CAO-UMC (salary scale 10). The applicant will get a contract with AMC Medical Research BV, which includes a payment of holiday allowance of 8% and a year-end bonus of 8.3% of the gross annual salary.

If you wish to apply for this position, please use the button ‘Apply’. For more information, please contact Professor Carla Hollak, phone: 020-5666071.

Contract type: Temporary,



The AMC is more than just a hospital. It is a world in which patient care, research and education are integrated, and in which people are always central. It is an academic world full of possibilities for talented individuals that are looking for a place where they can excel. Thinking big, daring to dream, cooperating internationally. And never letting yourself be put off by ‘It’s not possible’ or ‘It won’t work anyway’. That is the AMC mentality.

AMC Medical Research supports financiers, project leaders and coworkers on clear, effective and Legal execution of medical research within the Academic Medical Center (AMC) third parties financed. It contains advising and guidance on project preparations, project services and staffing management.

This project is financed by ZonMw and will be carried out at Sphinx, the Amsterdam Lysosome Center which is part of the AMC. Sphinx represents the close collaboration between the departments of Internal Medicine (division of Endocrinology and Metabolism) and Pediatrics with Laboratory and Radiology departments. It is the national referral center for the treatment of various lysosomal storage disorders, including Fabry disease. This implicates that all patients with Fabry disease are referred to the AMC for diagnosis, monitoring and treatment. Sphinx occupies a leading position internationally in its field of research. The PIs have contributed on an international level to the development of treatment guidelines, development of biomarkers and research into the pathophysiology of lysosomal storage disorders. Recently, the reimbursement and appropriate use of expensive orphan drugs for Fabry disease has received a lot of media attention. The AMC fulfills the role of conducting important follow-up studies and the current project is part of this.

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