Renal tubulopathies are a group of hereditary disorders affecting the kidney tubule which are the cause of disease in approximately 1:20,000 individuals. Despite the use of next-generation sequencing techniques, >30% of patients remain without diagnosis. Moreover, linking variant discovery to functional measurements remains a major challenge in the interpretation of genetic analysis.
In this project we will focus specifically on patients with Mg2+ wasting tubulopathies, who suffer from seizures, arrhythmias, muscle cramps and sometimes intellectual disability and cardiomyopathy. The heterogeneity of the disease and absence of patient-specific models have seriously hampered research in the last decades. As the pathophysiology of many Mg2+ wasting tubulopathies is poorly known, patient-specific models and better insights in the functional defects in the kidney are essential for the development of therapeutics. In this ERC Starting project, we will develop urine-based diagnostic assays and patient-derived kidney organoid models.
In this project, you will:
- Establish novel urine-based diagnostic approaches using single cell RNA sequencing and proteomics.
- Develop patient-specific kidney organoids to study renal ion transport and disease mechanisms of tubulopathy patients.
- Work in a multidisciplinary team of scientists, clinicians and patients to improve the diagnostics and therapy of patients with Mg2+ wasting tubulopathies.
Tasks and responsibilities
- You will design and perform scientific research in the area of cell biology, biochemistry and physiology.
- You generates and analyses the data in order to contribute to scientific publications and presents findings at scientific meetings.
- You are a team player and performs research in a stimulating environment.
- You work in an international research group with fellows from many countries.
- You complete the project with a scientific dissertation.
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