Stargardt disease due to mutations in the ABCA4 gene is the most frequent familial retinal dystrophy and is characterized by central vision loss due to the progressive degeneration of photoreceptor and retinal pigment epithelium cells. The age at onset and severity of Stargardt disease to a large degree depends on the types of mutations present in both copies of the ABCA4 gene.

A late age at onset (>40 yrs) can be observed when persons carry one severe and one mild mutation. For some mild mutations, when present together with a severe variant, it was shown that Stargardt disease may develop very late in life or may not develop at all. We also found that some combinations of ABCA4 mutations are found more often in females then in males. Together, these results led to the hypotheses that non-ABCA4 modifiers play an important role in the expression of Stargardt disease.

In this project the postdoc will search for genetic and non-genetic modifiers. Genetic modifiers will be searched through the comparison of genetic variants identified through whole genome sequencing in relevant patients and unaffected persons both from the Netherlands and through international collaborations. Non-genetic modifiers will be searched through the analysis of questionnaires filled in by these persons.

Tasks and responsibilities

• Systematically analyze whole genome sequencing data for variants that are enriched in Stargardt disease cases vs ethnically matched healthy controls and in severely affected Stargardt disease siblings compared to mildly affected siblings.
• Communicate with national and international ophthalmologists and geneticists to expand the patient cohort.
• Coordinate gene-specific and whole genome sequencing studies.
• Communicate results through scientific and laymen presentations.
• Take a leading role in writing manuscripts.
• Supervise junior scientists (BSc, MSc students, technicians) working in this project.
• Participate in educational tasks.

The ideal candidate for this postdoc position:

• has obtained the PhD degree in the last 4 years in the field of molecular life sciences.
• has experience with multifactorial risk factor assessments.
• has excellent communication and writing skills.
• is proficient in writing and speaking the Dutch language.
• has affinity with bioinformatics and statistics.
• works independently but can also work well in a team.

Fixed-term contract: 2 years.

Startingdate is between 1 November 2019 and 1 January 2020.

Upon 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.

Read more about the Radboudumc employment conditions and what our International Office can do for you when moving to the Netherlands.

Radboudumc

The postdoc will be working in the Blindness Genetics workgroup of the Department of Human Genetics, which has a dynamic, challenging and international working environment, in which interdisciplinary research is performed with basic, translational and applied aspects.

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.

Read more about what it means to work at Radboudumc and how you can do your part.