Postdoc 'Transcriptome analysis of iPSC-derived retinal cells of patients with inherited retinal dystrophies' | Radboud University Medical Centre

We are searching for a postdoc to work in the project entitled “Transcriptome analysis of iPSC-derived retinal cells of patients with inherited retinal dystrophies”. The project is funded by the Macula Vision Research Foundation and a private foundation sponsoring research towards elucidating cystoid macular dystrophy. This research project explores a group of hitherto hidden variants that cause autosomal dominant and recessive retinal dystrophies. Previously, we and others used genetic linkage and homozygosity mapping studies to identify unique chromosomal loci associated with retinal dystrophies. Using exome sequencing, we could not identify the causative variant(s) in these families. We hypothesize that a significant proportion of causative variants are located in introns and have a significant effect on the RNA splicing of the causative genes.

The postdoc will perform whole genome sequence analysis for selected patients to rule out single nucleotide variants or copy number variants that were missed in exome sequencing studies. He/she will also reprogram somatic cells of genetically unsolved patients to induced pluripotent stem cells and differentiate them to retinal cells. These will be subjected to transcriptome sequencing. RNA and DNA sequencing results will be correlated to identify RNA defects.

Profile

To be eligible for this position you should have a PhD degree in molecular life sciences. Cell culture experience regarding stem cells and reprogramming protocols is a prerequisite. Additional experience in differentiation of induced pluripotent stem cells to retinal cell lineages is recommended. Candidates should have experience in research supervision.

Organization

The department of Human Genetics performs groundbreaking research into the relationship between genes and diseases, notably concerning blindness and deafness, cancer, congenital anomalies, and intellectual disability. To identify and functionally characterize novel disease genes, we utilize a combination of biochemistry, genomics technologies, molecular biology, cell biology, and developmental systems such as Drosophila melanogaster, zebrafish and mouse. More recently, we have engaged in studies that pave the way for novel therapies for inherited retinal dystrophies and we are using induced pluripotent stem cell technology to uncover molecular defects and disease mechanisms underlying a range of human diseases, among which inherited blindness. We have created a friendly, stimulating interdisciplinary research environment hosting groups that lead their fields.

Comments and contact information

The maximal gross (before taxes) monthly salary will be € 3.961,-.

Starting date, between September 15th. and December 31st. 2013.

Further information can be obtained from Prof. dr. Frans P.M. Cremers, +31-24-3613750, Αυτή η διεύθυνση Email προστατεύεται από τους αυτοματισμούς αποστολέων ανεπιθύμητων μηνυμάτων. Χρειάζεται να ενεργοποιήσετε τη JavaScript για να μπορέσετε να τη δείτε., or Dr. Anneke I. den Hollander, +31-24-3610402, Αυτή η διεύθυνση Email προστατεύεται από τους αυτοματισμούς αποστολέων ανεπιθύμητων μηνυμάτων. Χρειάζεται να ενεργοποιήσετε τη JavaScript για να μπορέσετε να τη δείτε.

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