Postdoc 'Retinal Dystrophies Modifier Search'
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 …
- Geert Grooteplein Zuid, Nijmegen, Gelderland
- Tijdelijk contract / Tijdelijke opdracht
- Uren per week:
- 36 - 36 uur
- € 2826 - € 4481 per maand
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.
ConditionsStartingdate 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.
Additional 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 addresses of two professional references.
All additional information about the vacancy can be obtained from:
Prof. Frans P.M. Cremers, full professor, via +31(24) 36 137 50
Dr. Susanne Roosing, postdoc, via +31 (24) 366 89 01
Use the Apply button to submit your application.
Please apply before October 3, 2019.
Recruitment agencies are asked not to respond to this job posting.
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