Professor Frans P. M. Cremers

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Professor of Ophthalmogenetics in the Department of Human Genetics in the Radboudumc in Nijmegen, The Netherlands

Professor Cremers obtained his doctorate in Nijmegen in 1991, entitled ‘Positional cloning of a candidate gene for choroideremia gene’, under the supervision of Prof. B. Wieringa and Prof. H-H. Ropers. He headed the Division of Molecular Genetics from 1992 – 2011 and was the director of the topmaster program Molecular Mechanisms of Disease from 2005 – 2010.

He published 365 peer-reviewed papers and 15 book chapters on molecular genetics of inherited retinal diseases (IRDs). He supervised 42 PhD students and postdocs, of whom seven are now full professor (Camiel Boon, Rob Collin, Anneke den Hollander, B. Jeroen Klevering, Silvere van der Maarel, Ronald Roepman) or assistant professor (Susanne Roosing). 

He initiated and coordinated national (RD5000) and international (European Retinal Disease Consortium) collaborations in the IRD field. He is the director of the Foundation Fighting Blindness USA Program Project Award entitled ‘Splice Modulation to Treat Inherited Retinal Diseases’ and is a member of ERN-EYE. His team identified, or was significantly involved in, the identification of 32 IRD-associated genes, among which the X-linked choroideremia and RP3/RPGR gene, genes associated with Leber congenital amaurosis (CEP290, CRB1, LCA5), autosomal recessive retinitis pigmentosa (EYS, USH2A), autosomal recessive cone dystrophy (PDE6C, POC1B), as well as familial exudative vitreoretinopathy (TSPAN12, ZNF408). He also discovered the first hearing impairment gene, POU3F4, implicated in X-linked DFN3.

In the last eight years, he focused his research on ABCA4-associated Stargardt disease (STGD1). He discovered hidden intronic mutations in the ABCA4 gene by sequencing >3.000 STGD1 probands and studied their effect on the RNA using in vitro splice assays and stem cell technology. His team also identified a sex imbalance for a subgroup of STGD1 probands in which more females than males are affected, suggesting that one quarter of STGD1 cases are subject to polygenic or multifactorial inheritance. Currently, he also performs targeted sequencing of 180 genes in >7.000 international probands with IRDs.

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