Postdoc Human Genetics | Radboud University Medical Centre

We are searching for a postdoc to work in a project entitled “Identification of novel retinal dystrophy genes by combining homozygosity mapping and next generation sequencing”.

The project is funded by the Foundation Fighting Blindness (FFB) USA, and is one of six topics of an ongoing research center grant from the FFB in which we study clinical, genetic, and therapeutic aspects of inherited retinal disease. We have used genetic linkage and homozygosity mapping studies in combination with exome sequencing to identify causative variant(s). Depending on the clinical subtype, between 40 and 80% of the underlying genes have been identified for inherited retinal diseases. To identify the remaining genetic defects, we study patients from the Netherlands and, through collaborations with groups in Indonesia, Iran, and Pakistan, large cohorts of consanguineous families.

Together with a PhD student and technician, the postdoc will perform exome sequencing in persons with cone-rod dystrophy, Leber congenital amaurosis and retinitis pigmentosa. Through a large European network that collectively has ascertained >8.000 families with inherited retinal disease, we search for additional families with mutations in rarely mutated genes. Depending on the type of variants, RNA, protein, and cellular studies are performed to provide evidence for the pathologic nature of sequence variants, and to assess the underlying disease mechanisms.

Profile

To be eligible for this position you should have a PhD degree in molecular life sciences, if possible in molecular genetics. Experience with linkage/homozygosity software and analysis of exome sequencing data is highly 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 cell biology, and developmental systems such as Drosophila melanogaster and zebrafish. More recently, we have engaged in studies that pave the way for novel therapies for inherited retinal dystrophies and we are using 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

Starting date 1 January 2014.

The maximal gross (before taxes) monthly salary will be € 4.001,-.

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. (Use this email address only for information. For application please use the Apply button).

More information about blindness genetics.

Application deadline is 16 October 2013.