Prof Frans Cremers
Prof. Frans P. M. Cremers, PhD is professor of ophthalmogenetics in the Department of Human Genetics and Donders Institute for Brain, Cognition and Behaviour (Radboud University Medical Center, Nijmegen, The Netherlands). He is the director of the Foundation Fighting Blindness Nijmegen Research Center and an expert in molecular genetics of inherited retinal diseases. He published >270 papers (e.g. in the AJHG, Cell, Nature, Nature Genetics, PNAS, Science) and 15 book chapters. He initiated and coordinates national (RD5000) and international (European Retinal Disease Consortium – ERDC; http://www.ERDC.info) collaborations in the retinal disease field. His team identified worldwide the largest number (30) of genes mutated in inherited retinal diseases. This concerns genes responsible for classic retinal diseases, e.g. choroideremia (CHM/REP1), Norrie disease (NDP), and X-linked RP type 3 (RPGR), and frequently mutated genes associated with genetic heterogeneous retinal diseases, such as CEP290 and CRB1 in LCA, and EYS and USH2A (long isoform) in arRP. In addition TSPAN12 and ZNF408 were added to the Norrin-β-catenin pathway involved in familial exudative vitreoretinopathy. Recently, he focuses his research on ‘solving the unsolved’ IRDs by analyzing RNA abnormalities in retinal organoids differentiated from patient-derived stem cells. Emphasis is put on solving Stargardt disease cases with one or no mutation.