PhD Candidate ‘Single cell sequencing and proteomics to diagnose kidney disease’

Updated: almost 2 years ago
Job Type: Temporary
Deadline: 15 Jun 2022

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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