Mutations in CNNM2 membrane proteins were identified to be causative for hypomagnesemia, intellectual disability and seizures. CNNM2 mutations among the most common genetic causes for rare dominant hypomagnesemia. Currently, there are no clinical protocols for the diagnosis and follow-up of patients with CNNM2 mutations. Although it has been described that CNNM2 mutations impair renal magnesium reabsorption, the mechanisms that explain the disease are poorly understood.

Improving diagnostics and treatment can only be reached by systematic phenotyping of all known patients and by better understanding of the function of the CNNM2 protein. Based on our previous and preliminary data, we hypothesize that the function of CNNM2 is dependent on its interaction partners. Elucidation of the structure, regulation and function of the full CNNM2-complex will therefore aid to understand the pathogenesis of CNNM2 disease.

In this project, we aim to improve the understanding of CNNM2-associated disease by integrated structural, functional and biochemical techniques. The project is part of the large interdisciplinary FIGHT-CNNM2 research consortium. The postdoctoral fellow will work in close collaboration with research partners from Spain, Germany and Canada, the European Reference Network ERKNet and the patient association HIPOFAM. Altogether this innovative and international multidisciplinary network combines expertise in biochemistry, molecular and cell biology, genetics, structural biology, bioinformatics and patient care.

Tasks and responsibilities

• 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.

• PhD degree in 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
• Preferentially experience with animal experimentation (art. 9)

Fixed-term contract: 1 year with a possible extension.

The position is initially for 12 months, with a possible extension to 3 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.

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 has a long-standing tradition in transport physiology in epithelia and has built up a substantial know-how and infrastructure in the field of molecular and cellular physiology of electrolyte transport. The Molecular Physiology group consists of an enthusiastic research team of about 25 people and is, together with basic science and research-oriented clinical departments of the Radboud university medical center, housed in the Radboud Institute for Molecular Life Sciences. This integrates diverse scientific expertise in molecular and medical science for the advancement of innovation in 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.

Read more about what it means to work at Radboudumc and how you can do your part.