Ongeveer 7 uur geleden - Universiteit Utrecht (UU) - Utrecht
Postdoc 'Functional characterization of genetic variants'
The Translational Metabolic Laboratory operates at the cross roads of diagnostic and research, and specializes in using various “omics” technologies as the functional counterpart of genomics.
- Geert Grooteplein Zuid, Nijmegen, Gelderland
- Tijdelijk contract / Tijdelijke opdracht
- Uren per week:
- 36 uur
The Translational Metabolic Laboratory operates at the cross roads of diagnostic and research, and specializes in using various “omics” technologies as the functional counterpart of genomics. Strong arease of research and diagnostics in the lab are mitochondrial disorders, complement-mediated disorders, iron metabolism disorders, neurological disorders, and congenital disorders of glycosylation. Within Radboudumc, we have implemented whole exome/genome sequencing to identify disease causing mutations in patients suffering from these disorders. Unfortunately, in a substantial number of patients, genetic variants of unknown clinical significance are detected, of which it is uncertain if these explain the clinical phenotype. These variants can be situated in known disease genes, but also in novel candidate disease genes. In both cases, the functional consequences of these genetic variantss has to be further investigated in a functional genomics workflow.
We are looking for an ambious postdoc to strengthen our team working on the development of novel functional read-outs and model systems, to be used to functionally validate such genetic variants of unknown clinical significance. Examples of these model systems are iPSCs, primary muscle cell cultures, and patient-derived fibroblasts, combined with for example lentiviral transduction, CRISPR/Cas9 mediated knock outs, or overexpression systems. The type of functional tests that are developed include assays that make use of intracellular metabolomics/flux analysis and proteomics, as well as various more specific enzyme and metabolite tests.
The postdoc will work together with a multidisciplinary team of technicians and scientists to coordinate the various functional genomics activities within our laboratory. The main tasks are to develop new functional read-outs, to translate new functional genomics questions into plans of action, and to interact with the different theme groups in the lab about functional read-outs. The main goal of the project is to develop novel diagnostic applications. In addition, the project offers ample possibilities for further scientific developments in the Functional Genomics field.
Tasks and responsibilities
- Coordinate the laboratory activities for the development of Functional Genomics diagnostics at TML;
- Design and implement various cell biological and molecular biological assays for the validation of genetic defects;
- Participate in the development of novel intracellular metabolomics/metabolic flux/proteomics assays, together with our mass spectrometry colleagues;
- Work in a mulidisciplinary team with scientists and technicians;
- Presents findings in national and international research meetings and in scientific publications.
- A PhD in (molecular) biology, medical biology or similar;
- Experience with molecular and cell biological techniques;
- Knowledge about applications of mass spectrometry (preferred, but not required);
- Excellent communication/social skills, team player;
- You recognise yourself in the Radboud way of working.
Scale 10: max. € 58838 gross income per year at full employment (incl. vacation bonus and end of year payments)
Read more about the Radboudumc employment conditions.
Applications should send a letter of intent outlining their specific interest in the position, overall related qualifications, experience and career goals, a curriculum vitae and details of professional references.
All additional information about the vacancy can be obtained from Dr. Richard Rodenburg, Clinical Laboratory Geneticist Mitochondrial Medicine, who can be contacted through the TML secretary office via + 31 (0)24 3614567. Use the Apply button to submit your application.
Upon commencement of employment we require a certificate of conduct (Verklaring Omtrent het Gedrag, VOG) and there will be a screening based on the provided CV. Radboud university medical center’s HR Department will apply for this certificate on your behalf.