Three PhD positions will be available within the Health Holland consortium project. The PhD position based in Nijmegen at the department of Physiology Radboudumc is focussed on the development of advanced renal disease models to allow better functional characterization in order to understand the causative mechanisms of the pathogenic mutations in renal disease patients. Altogether this proposal will improve diagnostics, genetic counselling, prognostics, and treatment of patients with genetic kidney diseases. The close collaboration with industrial partners will ensure rapid translation from research to practice and open up new economic perspectives.

In the Netherlands, more than 6,000 people require dialysis or kidney transplantation. Patients with end-stage kidney disease have a mean life-expectancy of only 5-10 years and significantly reduced quality of life. Emerging data indicate that genetic defects contribute significantly to their aetiology, not only in children but also at adult age. This particularly applies to diseases affecting the renal interstitium and tubules, together comprising up to 33% of monogenic kidney diseases. These diseases include ciliopathies/tubulo-interstitial diseases (e.g. nephronophthisis and uromodulin-, mucin 1- and HNF1beta-related diseases) and tubulopathies (e.g. Bartter syndrome, cystinosis). Yet, many patients with a suspected ciliopathy or tubulopathy remain undiagnosed. Recent genetic and technological advances, for the first time, not only allow large-scale genetic diagnostics for these patients, but also allow the development of new methods for studying treatment options.

This Health Holland consortium consisting of Radboudumc, University of Utrecht, University Medical Center Groningen and several industrial partners aims to improve diagnostics of patients with ciliopathies and tubulopathies, enhance quality of care, and translate genetic findings to personalized care by testing pharmacological treatment approaches based on patient-derived disease models. To this end, the consortium will address the following key objectives:

• A cohort of 150 patients with tubulopathies and ciliopathies will be subjected to next-generation sequencing (NGS) genetic diagnostics and extensive biobanking.
• Patient-specific cell and tissue models, including kidney organoids, will be developed and used for functional analysis to identify the molecular mechanisms of ciliopathies and tubulopathies.
• Using pharmacological screening, the newly developed cell models will facilitate the development of personalized treatment strategies for ciliopathies and tubulopathies.

Tasks and responsibilities

• Design and perform scientific research in the area of molecular biology, biochemistry and physiology.
• Generate and analyse the data in order to contribute to scientific publications and presents findings at scientific meetings.
• Work in a team with other students and scientists to discuss, plans and performs research in a stimulating environment.
• Work in an international research group with fellows from many countries.
• Complete the project with a scientific dissertation.

• MSc in (Medical) Biology, Biomedical Sciences or Medicine.
• Independent and well-structured working style.
• Strong motivation to succeed in scientific research.
• Well-developed social skills directed to work in a team.
• Experience with (bio)medical research and molecular level of thinking.

Fixed-term contract: 4 years.

The salary depends on education. Scale 10 will be offered to MSc medical graduates; those holding degrees in other disciplines will be offered scale 10A.

Upon commencement of employment we require a certificate of conduct (Verklaring Omtrent het Gedrag, VOG) and there will be, depending on the type of job, a screening based on the provided cv. Radboud university medical center's HR Department will apply for this certificate on your behalf.

Read more about the Radboudumc employment conditions and what our International Office can do for you when moving to the Netherlands.

Radboudumc

The department of Physiology provides an international and stimulating working environment for its 50 employees and is an exciting place to perform basic research, translational and clinical medicine, and enjoy teaching. The department encompasses complementary research groups whose interests range from cardiovascular disease, molecular regulation of ion transport processes in the kidney to the study of metabolism in the body. Working collaboratively within the department, we use our expertise to investigate how molecules, cells, organisms and humans function and how we might modulate their physiology to ultimately improve health in the patient.

This project will be executed in the Molecular Pharmacology group and is part of the Renal Disorders Theme within the Radboudumc, a leading multidisciplinary graduate school within the domain of molecular mechanisms of disease and particularly in the fields of molecular medicine, cell biology and translational research.

Research Institutes
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
Radboudumc strives to be a leading developer of sustainable, innovative and affordable healthcare to improve the health and wellbeing of people and society in the Netherlands and beyond. This is the core of our mission: To have a significant impact on healthcare. To get a better picture of what this entails, check out our strategy.

Read more about what it means to work at Radboudumc and what our people have to say about it.