The inherited sensory diseases retinal dystrophy and hearing impairment display an enormous degree of genetic heterogeneity. A genetic diagnosis is essential for prognosis, counseling and eligibility for novel gene- and mutation-specific therapies that are currently under development. Whole exome sequencing analyses the coding regions of the genome and reveals pathogenic DNA variants in maximally ~65% of the cases. We hypothesize that many of the ~35% missing mutations in the sensory diseases are located in non-coding sequences and introduce premature translation termination defects or alter gene transcription or mRNA stability.

In this project, we will focus on the most frequently mutated gene in hereditary deaf-blindness (Usher syndrome) and non-syndromic recessively-inherited retina degeneration: USH2A. Whole genome sequencing (WGS) will be employed with the aim to genetically solve (non)syndromic inherited retinal degeneration cases for whom only one causal variant in USH2A was identified in previous genetic screenings. The effect of intronic variants that will arise from WGS and that are predicted to interfere with splicing will subsequently be analyzed in cell-based splicing assays.

The candidate for this research technician position:

• has a background in Applied Sciences, Biologie en Medisch laboratoriumonderzoek (HLO), Molecular Life Sciences or Biomedical Sciences (BSc);
• has experience in molecular genetics;
• has experience with PCR, (quantitative) RT-PCR, cloning, mutagenesis and Sanger sequencing;
• has expertise in cell culture;
• has affinity with bioinformatics;
• is team-oriented.

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.

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Radboudumc

The 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 project is based on a collaboration of the Departments of Human Genetics and Otorhinolaryngology.

Radboudumc
Radboudumc 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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