The ZOEMBA ("ZOektocht naar Erfelijke MetaBole Aandoeningen") study is a national multicentre study, led by the 'United for Metabolic Diseases' (UMD) consortium. The study focusses on the identification of the genetic etiology underlying suspected inherited metabolic disorders for patients who have exhausted standard of care technologies. Obtaining a diagnosis for patients is of utmost importance as it paves the way to personalized therapeutic opportunities. Will you join us?

The aim of this PhD project is to analyse and interpret existing exome and genome data of 350 patients (and their families) and integrate these with other -omics technologies such as metabolomic and transcriptomic datasets, to identify the possible cause of disease. Follow-up functional studies will be performed to validate pathogenicity of the identified variants to establish a conclusive diagnosis for these patients. The obtained results will subsequently serve as input to define the most efficient diagnostic strategy, which will be translated into guidelines for routine diagnostic care.

The project is part of an interdisciplinary collaboration between clinic and research, as well as, genetic and metabolic laboratories. You closely interacts with the research groups of Prof. dr. Clara van Karnebeek (Amsterdam UMC) and colleagues at the Translational metabolic laboratory (RUMC). You will be hosted at the Human genetics Department of the Radboudumc, under supervision of Prof. dr. Lisenka Vissers, Dr. Machteld Oud, and embedded in the Donders Institute for Brain, Cognition and Behaviour of the Radboud University Medical Center.

Tasks and responsibilities

• Will be responsible for analysing and interpreting large omics datasets (exomes, genomes, transcriptomes) of patients with a metabolic disease.
• Design and perform scientific research in a stimulating environment.
• Work in a local team with PhD students, scientists and clinicians, but also at national level with other institutes within the Netherlands.
• Publish the obtained results in (peer-reviewed) scientific journals and present the data at (inter)national scientific conferences.
• Finish the PhD track with a scientific dissertation.

We are looking for a PhD candidate with an academic degree (MSc) in molecular life sciences, biomedical sciences or a related discipline. You have a strong background in molecular genetics. Furthermore:

• Affinity with bioinformatic analyses and working with big data.
• Affinity with basic molecular laboratory work.
• Highly motivated to work in an interdisciplinary environment at the cutting edge of science.
• Excellent interpersonal and communication skills and is willing to work flexibly.

Fixed-term contract: 4 years.

Working at Radboud university medical center means that you are ahead of the curve and working together on the healthcare of the future. And there is more. Our secondary terms of employment are impressive. These are fully tailored to you thanks to our Employment Conditions Selection Model. At Radboud university medical center, you will be given trust, and you will take the responsibility to handle everything together. We provide annual courses, both professional and personal.

• In addition to your monthly salary and an annual vacation allowance of 8%, you will receive an end-of-year bonus of 8.3%.
• If you work irregular hours, you will receive an allowance.
• As a full-time employee (36 hours per week), you are entitled to approximately 168 vacation hours (over 23 days) per year.
• Radboud university medical center pays 70% of the pension premium. You pay the rest of the premium with your gross salary.
• You get a discount on health insurance as well: you can take advantage of two group health insurance plans. UMC Zorgverzekering and CZ collectief.

In addition to our terms of employment, we also offer employees various other attractive facilities, such as childcare and sports facilities. Want to learn more? Take a look at the Cao UMC.

Radboudumc

The research project will be based at the department of Human Genetics of the Radboudumc. We provide a stimulating work environment within a group of enthusiastic clinical and non-clinical researchers with a strong national and international research network. The department houses a range of top researchers in the area of Medical Genetics and has a strong track record, with recent publications in high-impact journals (Science, Nature, Nature Genetics). The combined infrastructure is state-of-the-art including innovative genetic technologies (Next-Generation Sequencing and affiliated omics) and a wide range of cellular functional assays.

At the moment there are more than 1,300 PhD candidates at our medical hospital. This number includes PhD candidates on our pay roll as well as external candidates (those employed somewhere else but researching on our premises).

• Radboud Institute for Health Sciences: ± 700
• Radboud Institute for Molecular Life Sciences: ± 400
• Donders Center for Medical Neurosciences: ± 200

Read what it is like to do a PhD at the Radboud University Medical Center.

Radboudumc
Radboud university medical center is a university medical center for patient care, scientific research, and education in Nijmegen. Radboud university medical center strives to be at the forefront of shaping the healthcare of the future. We do this in a person-centered and innovative way, and in close collaboration with our network. We want to have a significant impact on healthcare. We want to improve with each passing day, continuously working towards better healthcare, research, and education. And gaining a better understanding of how diseases arise and how we can prevent, treat, and cure them, day in and day out. This way, every patient always receives the best healthcare, now and in the future. Because that is why we do what we do.

Read more about our strategy and what working at Radboud university medical center means. Our colleagues would be happy to tell you about it. #weareradboudumc