Chronic Kidney Disease (CKD) is a heterogenic group of disorders that has a variety of causes and underlying pathologies. As a result, most of the research in CKD is focused on common pathways rather than the causative factors. By studying rare monogenic disorders, it is possible to increase our understanding of the molecular mechanisms involved in common disorders such as CKD.

Recently, we identified mutations in FAM111A in patients with renal failure, short stature, hypoparathyroidism and hypomagnesemia. This syndrome has been first described in the 1960s and has been named Kenny-Caffey syndrome type 2 (KCS2). Although KCS2 has long been considered as an endocrine disorder, our recent findings show that FAM111A mutations cause renal failure and magnesium wasting.

FAM111A is a nuclear protein that is ubiquitously expressed, but its function is largely unknown. Our preliminary pull-down and RNA-sequencing experiments indicate that FAM111A interacts with transcription factors. In this PhD project, the role of FAM111A will be studied to understand how FAM111A contributes to renal failure in patients with KCS2 as well as in the general population.

Tasks and responsibilities
The PhD candidate:

• Will design and perform scientific research in the area of molecular biology, biochemistry and physiology.
• Generates and analyses the data in order to contribute to scientific publications and presents findings at scientific meetings.
• Works in a team with other students and scientists to discuss, plans and performs research in a stimulating environment.
• Works in a highly ambitious and international research group with fellows from many countries.
• Completes the project with a scientific dissertation.

• MSc in (Medical) Biology or Biomedical Sciences.
• 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.
• Preferentially permitted to work with animals (art. 9).

Fixed-term contract: 4 years.

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.

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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 Ion Transport group and is part of the Renal Theme within Radboud Institute for Molecular Life Sciences (RIMLS), 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.

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.

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