- 36 hours a week
- 2 years
- Date of publication: 19 November 2020
- Deadline: 4 December 2020
- Scale 7: min € 2422 - max € 3280 gross per month at full employment (excl. vacation bonus and end of year payments)
- First interview scheduled: 9, 10, 11 December 2020
Job descriptionNon-syndromic IRDs can be caused by mutations in ~200 different genes. The most frequent IRD, retinitis pigmentosa (RP), is characterized by night blindness at disease onset, followed by tunnel vision due to progressive rod photoreceptor degeneration, and in some cases, complete blindness. A more severe IRD is Leber congenital amaurosis (LCA), in which severe visual impairment is apparent before the age of 1 year. Mutations in 100 genes can give rise to RP or LCA. Until recently, no treatments were available for these conditions. This changed with the development of a gene augmentation therapy for individuals with early-onset RP or LCA due to mutations in the RPE65 gene. An FDA and EMA approved treatment, i.e. LuxturnaTM, is now available for persons carrying RPE65 mutations. For other IRD-associated genes, clinical trials are underway and some of these will be in clinical practice in the next 5 years.
As a research technician you will be involved in two lines of research, i.e. in high-throughput sequence analysis of sets of ~100 genes implicated in IRDs, and whole genome sequencing of genetically unsolved IRD cases. The effect of putative pathogenic intronic variants that are predicted to interfere with splicing will be analyzed in cell-based splicing assays.
ProfileThe candidate for this research technician position:
- Has a background in Molecular Life Sciences or Biomedical Sciences (BSc).
- Has experience in molecular genetics.
- Has affinity with data analysis.
- Has experience with PCR, (quantitative) RT-PCR, cloning, mutagenesis and Sanger sequencing.
- Has expertise in cell culture.
- Has a structured manner of working.
- Is team-oriented.
OrganizationThe research technician will be a member of the Blindness Genetics workgroup at the Department of Human Genetics with an excellent, dynamic, challenging and international working environment in which interdisciplinary research is performed with basic, translational and applied aspects. The Blindness Genetics workgroup aims to identify all genetic defects underlying inherited retinal diseases (IRDs) until 2025. We focus on hidden non-coding and structural variants and the functional analysis of mutant RNAs and abnormal chromosomal arrangements.
Further information on the research of the supervisors is available at this website.
Radboudumc in Nijmegen 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.
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Employment conditionsUpon 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.
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Comments and contact informationApplicants should send a motivation letter outlining their interest in the position, their qualifications related to the vacancy, their experience, a curriculum vitae and names and e-mail addresses of two professional references.
All additional information about the vacancy can be obtained from Prof. Frans P.M. Cremers and Dr. Susanne Roosing. Use the Apply button to submit your application.
Please apply before 4 December 2020.
Recruitment agencies are asked not to respond to this job posting.
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