Postdoc Retinal Dystrophy Mutation Search
Non-syndromic inherited retinal dystrophies (IRDs) can be caused by mutations in ~200 different genes. The most frequent IRD, retinitis pigmentosa (RP), is …
- Geert Grooteplein Zuid, Nijmegen, Gelderland
- Tijdelijk contract / Tijdelijke opdracht
- Uren per week:
- 36 - 36 uur
- € 2911 - € 4615 per maand
Non-syndromic inherited retinal dystrophies (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.
In this project the postdoc will search for genetic defects in at least 4.000 persons with RP or LCA by using a high throughput and cost-effective targeted sequencing of exons of ~100 RP/LCA-associated genes using single molecule Molecular Inversion (smMIP) probes and next generation sequencing. We will pay extra attention to the RPE65 gene by sequencing the complete 20-kb gene, which allows us to detect causal deep-intronic variants. In addition, we will use Bionano Optical Mapping and PacBio-based long-read whole genome sequencing to detect structural variants that may be missed by short read sequencing technologies.
The postdoc will:
- Communicate with international ophthalmologists and geneticists to obtain patient DNAs.
- Communicate with members of our genomics facility and bioinformatics core group to establish the semi-automated sequencing set-up and the variant annotation pipeline, respectively.
- Perform variant interpretation and validation.
- Communicate results through scientific and laymen presentations.
- Take a leading role in writing manuscripts.
- Supervise junior scientists working in this project.
- Participate in educational tasks.
The ideal candidate for this postdoc position:
- Has obtained the PhD degree in the last 3 years in the field of molecular life sciences (a PhD in the field of genetics is a pre).
- Has excellent communication and writing skills.
- Has affinity with bioinformatics, data analysis and statistics.
- Works in a very organized manner.
- Works independently but can also work well in a team.
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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Additional informationAnticipated start date between 1 January 2021 and 1 April 2021.
Applicants 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 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.