PhD Candidate 'ZOEMBA - ZOektocht naar Erfelijke MetaBole Aandoeningen'

The ZOEMBA ("ZOektocht naar Erfelijke MetaBole Aandoeningen") study is a national multicentre study, led by the 'United for Metabolic Diseases' (UMD) consortium. The study focusses on the identification of the genetic etiology underlying suspected inherited metabolic disorders for patients who have exhausted standard of care technologies. Obtaining a diagnosis for patients is of utmost importance as it paves the way to personalized therapeutic opportunities. Will you join us?

The aim of this PhD project is to analyse and interpret existing exome and genome data of 350 patients (and their families) and integrate these with other -omics technologies such as metabolomic and transcriptomic datasets, to identify the possible cause of disease. Follow-up functional studies will be performed to validate pathogenicity of the identified variants to establish a conclusive diagnosis for these patients. The obtained results will subsequently serve as input to define the most efficient diagnostic strategy, which will be translated into guidelines for routine diagnostic care.

The project is part of an interdisciplinary collaboration between clinic and research, as well as, genetic and metabolic laboratories. You closely interacts with the research groups of Prof. dr. Clara van Karnebeek (Amsterdam UMC) and colleagues at the Translational metabolic laboratory (RUMC). You will be hosted at the Human genetics Department of the Radboudumc, under supervision of Prof. dr. Lisenka Vissers, Dr. Machteld Oud, and embedded in the Donders Institute for Brain, Cognition and Behaviour of the Radboud University Medical Center.

Tasks and responsibilities

• Will be responsible for analysing and interpreting large omics datasets (exomes, genomes, transcriptomes) of patients with a metabolic disease.
• Design and perform scientific research in a stimulating environment.
• Work in a local team with PhD students, scientists and clinicians, but also at national level with other institutes within the Netherlands.
• Publish the obtained results in (peer-reviewed) scientific journals and present the data at (inter)national scientific conferences.
• Finish the PhD track with a scientific dissertation.