Postdoc 'Molecular therapy for EYS-associated retinal disease'

• Nijmegen

Pathogenic variants in the EYS gene are a recurrent cause of autosomal recessively inherited retinitis pigmentosa a progressive form of vision loss that can lead to complete blindness. Due to the large size of the EYS gene and the encoded protein plus the fact that it is absent from the genome in some rodent species little is known about the exact physiological role of EYS within the light-sensing photoreceptor cells of the retina. Consequently there is also not yet a treatment available for patients with EYS-associated retinal disease.

Based on our previous work including that in mutant eys-deficient zebrafish models we have designed a number of therapeutic strategies with recent preliminary data showing efficacy in our model this project these strategies will be further developed tested and optimized in our zebrafish models as well as in iPSC-derived retinal organoids from patients with EYS variants.

The main experimental techniques that will be used are: design and development of molecular interventions (ASO- and CRISPR/Cas-based) cell culture (including iPSCs and retinal organoids) cloning RT-PCR Western blot immunocyto-/histochemistry generation and maintenance of mutant zebrafish models.

Key activities and responsibilities include:

• Independent planning and execution of experiments.
• Critical analysis of data.
• Monitoring and safeguarding project deliverables and deadlines.
• Project reporting (oral and written).
• Writing scientific manuscripts.
• Attending national and international scientific conferences / symposia.
• Participating in team science outside your own project.

The post-doc will work in the research group of prof. dr. Rob Collin at the Department of Human Genetics at the Radboud university medical center in Nijmegen The Netherlands. The group consists of appx. ten employees including post-docs PhD candidates technicians and MSc / Bsc students all dedicated to design and develop therapeutic interventions for patients that are visually impaired with the incentive to prevent them from getting blind.

The group maintains close collaborations with other research groups and disciplines (e.g. the Department of Ophthalmology at Radboudumc) inside The Netherlands (Lifelong Vision consortium) as well as internationally.