Job Description: AREA VII
ER (Postdoc)

Title: Elucidation of the molecular causes of retinal detachment.
Principal investigators: F.P.M. Cremers PhD and mrs. A. Maugeri PhD
Department of Human Genetics
University Medical Center Nijmegen
The Netherlands.

Autosomal dominant rhegmatogenous retinal detachment (adRRD), Wagner disease and erosive vitreoretinopathy form a clinically diverse group of vitreoretinopathies. We have analysed two large families with RRD and found involvement of the COL2A1 gene in one family and linkage with the COL2A1 locus in the other family. We collected 15 additional smaller-sized families with adRRD, 3 families with Wagner disease, and one family with erosive vitreoretinopathy. One of the Wagner disease families comprises more than 10 subfamilies with a total of 26 affected individuals.
The researcher taking part in the RETNET program will be involved in linkage analysis of the 15 adRRD families using DNA markers from COL2A1 and other loci harboring collagen genes. In addition, the candidate will genetically fine map the Wagner disease/erosive vitreoretinopathy critical region at 5q14.3. Candidate genes from this region will be analysed for mutations. Upon identification of the Wagner disease gene, it will be clear whether Wagner disease and erosive vitreoretinopathy are allelic disorders. If this is the case, a genotype-phenotype correlation will be made. Depending on the characteristics of the implicated gene, we will decipher its normal and abnormal cellular function using immunolocalization, protein-protein interaction studies, and protein overexpression studies.

The candidate should have ample experience in molecular genetic techniques. Information on the background of the Ophthalmogenetic research group in Nijmegen can be found at the following website:

ESR (PhD Student)

We are studying the molecular and cellular processes underlying inherited human diseases of the vitreous and retina. The project aims to elucidate the molecular causes associated with Wagner disease and exudative vitreoretinopathy. In both diseases there is an incomplete peripheral angiogenesis often resulting in retinal detachment and in some cases to significant vision loss. We have collected 20 unrelated families with Wagner disease and are zooming in on the gene defect(s). We have ascertained ~40 unrelated families with exudative vitreoretinopathy (EVR) and in the coming year will perform detailed clinical studies and collect blood samples from these families. Known autosomal dominant EVR genes (FZD4 and LRP5) will be analysed for mutations and genotype-phenotype correlations will be made.

Depending on the outcome of ongoing studies, the PhD student will be involved in one or both of these topics. We will decipher the normal and abnormal cellular function of the Wagner protein using a range of biochemical techniques, including immunolocalization, protein-protein interaction studies, and protein overexpression studies. In DEVR families with no mutations in FZD4 or LRP5 that are of sufficient size, we will perform linkage analysis of the EVR3 locus at 11p or perform whole genome linkage scans.

Candidate profile:
M.Sc. or equivalent in Molecular Genetics, Human Genetics, or Biochemistry. Knowledge in biocomputing. Fluent in speaking, reading and writing English.

Radboud University Medical Centre Nijmegen: The ESR/PhD student will be enrolled in the Nijmegen Centre for Molecular Life Sciences PhD programme and will be trained in various technologies on an international level trough the EU RTN. Information on the Division of Molecular Genetics, Department of Human Genetics in Nijmegen (projects, facilities etc) can be found

Applications including a CV and two letters of reference should be sent before May 20, 2005 to:

Prof. dr. F.P.M. Cremers PhD
Department of Human Genetics
Radboud University Nijmegen Medical Centre
P.O. Box 9101
6500 HB Nijmegen
The Netherlands

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