Inherited defects in crucial cell biological processes lead to severe disease in children. We combine innovative basic science on disease mechanisms with patient oriented research with the ultimate goal to develop treatment strategies. In our research on neuromuscular disorders with abnormal protein glycosylation, we have discovered novel metabolic pathways that are amenable to treatment. In this project, muscle-specific cell models will be generated by CRISPR/Cas9 genome editing (knock-out and knock-in) and from patient fibroblasts (via iPSCs and/or MyoD transduction).
 
Metabolomics analysis of sugar metabolites (levels and flux analysis) are available in the group to investigate the generated cell lines. The project has a strong translational signature, combining basic and patient-oriented science. The goal of this position is to establish a research group on the pathophysiological mechanisms of inherited myopathies in between the clinics and basic science.                

The ideal candidate has/is:

• an academic degree (MSc and PhD) in molecular life sciences or any related discipline;
• 2 - 5 years post-doctoral experience, and has shown excellent capabilities to perform independent high-level research, related with muscle cell pathophysiology;
• Strong experience in muscle-cell models
• Strong experience in Molecular biology techniques
• Enthusiasm, curiosity and ambition to succeed in academic research;
• Interested in translational research.

Fixed-term contract: 3 years.

Scale 10: max. € 57947 gross income per year at full employment (incl. vacation bonus and end of year payments)

Radboudumc (university medical center)

The Radboudumc center advances human knowledge by conducting biomedical, translational and clinical research in order to improve wellbeing.

Our key strength is medical life-sciences and clinical practice, with an impressive infrastructure comprising state-of-the-art technology platforms and (translational) research facilities. The Radboudumc is therefore uniquely positioned in the emerging Euregio and Dutch healthcare infrastructure to play a leading role in the new healthcare paradigm of prediction, prevention and personalised medicine.

The Radboudumc focuses on scientific health challenges of today, with an eye on emerging diseases of the future.

Our mission: ‘to have a significant impact on healthcare’.

The position is in the Department of Neurology, physically housed in the Translational Metabolic Laboratory, and with strong interactions with the department of Human Genetics. The goal of this position is to establish a research group on the pathophysiological mechanisms of genetic myopathies in between the clinic and genetics. The Radboudumc offers several programs to support the early steps of a scientific career, which will form part of the selection process.
 
The Translational Metabolic Laboratory harbors a range of top researchers in the area of inherited diseases: disorders of movement, mitochondrial disease, protein glycosylation (CDG), etc. This lead to recent publications in high-impact papers (Science, NEJM, Nature Genetics) in the field of Glycosylation-related myopathies. The research in the lab is closely linked to other departments such as Genetics and Pediatrics.
 
The combined infrastructure is state-of-the-art including innovative genetics tools (TALEN&CRISPR/cas9 technology, Next-Generation Sequencing, etc.), the Radboudumc Technology Center for mass spectrometry and a wide range of cellular functional assays. In addition, many research is performed in model cells and organisms using molecular biology tools to identify and investigate new disease genes.