European Vision Awardee 2010

The European Vision Institute EEIG proudly presents the winner of the European Vision Award 2010:

Dr. Ronald Roepman
Radboud University Nijmegen Medical Centre, Nijmegen Centre for Molecular Life Sciences (NCMLS), Nijmegen, The Netherlands

Ronald Roepman is a group leader in the Division of Molecular Genetics at the Department of Human Genetics since 2002. His group is studying the functional basis of inherited retinal degenerations using a functional genomics approach.

Ronald Roepman started his scientific career in the late nineties concerning the identification and functional analysis of the most frequently mutated X-linked RP gene, RPGR. He employed an impressive number of different techniques and strategies to identify this important retinal disease gene. This achievement was not fully visualized in the resulting publications (Roepman et al. 1996a,b Human Molecular Genetics), as the relevant papers were submitted a few weeks after competing papers. Nevertheless, his results were impressive as he took up the challenge to identify a gene that had been elusive since the initial linkage studies of X-linked RP by S. Bhattacharya in 1984 up to his PhD project start in 1994. In two years time, he was able to identify the RPGR/X-linked RP3 gene using meticulous molecular genetic studies which included a novel microdeletion screening method based on Yeast artificial chromosome (YAC)-derived fragments and cosmid library constructions from YACs spanning the RP3 critical region.

Dr. Roepman specialized in functional genomics techniques such as yeast-two hybrid screening and other protein-protein interaction studies. To further develop his skills, he performed a guest-fellowship with dr. Paulo Ferreira in Milwaukee. These studies enabled him to identify RPGRIP1 as an interactor of RPGR (Roepman et al. 2000); RPGRIP1 was later found to be mutated in patients with LCA. He expanded the photoreceptor ciliary protein network with the finding that RPGRIP1 interacted with NPHP4, mutated in nephronophthisis. Through his collaborations with many colleagues, both local and international, he developed into an expert of ciliary protein networks. This expertise culminated in two key Nature Genetic papers in which he was the senior author (den Hollander et al. 2007; Arts et al. 2007).

In the Radboud University Nijmegen Medical Centre, he was recently elected principal investigator, an honor that is restricted to a highly selective group of researchers. All his activities will have a large and long-term impact on our knowledge concerning ciliopathies implicating the eye, the kidney, and many other organs such as the brain (see e.g. Coene et al. 2009).