Prof. Frans P.M. Cremers, PhD
Frans Cremers received a cum laude doctorate in 1991 on the thesis entitled: ‘Positional cloning of a candidate gene for choroideremia’. In 1990, he received a student award in the category ‘predoctoral basic’ at the 41st Annual Meeting of the ASHG, and in 1991 the Retinitis Pigmentosa Award for the Prevention of Blindness 1990, Essen, Germany. He worked as a guest-fellow from 1992 – 1993 with dr. M. Seabra, prof. dr. M. Brown, and prof. dr. J. Goldstein in the Southwestern Medical School, Dallas, TX, USA. In 2004 he was appointed full professor Molecular Biology of Inherited Eye Diseases. He was awarded the first European Vision Award from the European Vision Institute in October 2007, in Portoroz, Slovenia.
From 2005 – 2010 he was Programme Director of the MSc Molecular Mechanisms of Disease. He supervised 23 PhD students and was awarded the ‘Internationalizations Award 2010’ for his efforts to facilitate MSc and PhD studies in the Netherlands. He is the director of the FFB Research Center Nijmegen, coordinates the European Retinal Disease Consortium, and initiated a national programme (RP5000) that aims to genotype and phenotype all ~5.000 families with inherited retinal diseases in the Netherlands.
He published 250 peer reviewed papers, and was the first to positionally clone a retinal dystrophy gene (X-linked choroideremia [CHM]), and an inherited deafness gene (X-linked mixed deafness, DFN3 [POU3F4]). He also contributed significantly to the identification of the X-linked Norrie disease gene (NDP), X-linked RP (RPGR), the Leber congenital amaurosis genes CRB1, RPGRIP1, CEP290, IQCB1 and LCA5, the autosomal recessive retinitis pigmentosa genes ABCA4, BBS1, CLRN1, C2ORF71, EYS, and MVK, the cone dystrophy/achromatopsia genes PDE6C, POC1B, RAB28, the cone-rod dystrophy genes ABCA4 and C8orf37, and the autosomal dominant hearing impairment gene COCH (DFNA9). He also identified two novel familial exudative vitreoretinopathy genes (TSPAN12, ZNF408).
The Choroideremia Research Foundation Inc. is an international, non-profit organization dedicated to raising funds to find a treatment or cure for Choroideremia, a rare inherited retinal degenerative disease that causes blindness.
Copyright © 2017 The Choroideremia Research Foundation Inc.