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Department of Human Genetics
P.O. Box 9101
6500 HB, Nijmegen
The Netherlands
T +31 24 3613750
F +31 24 3668752

Frans Cremers is head of the Division of Molecular Genetics. He is a full professor in Ophthalmogenetics and director of the international master programme Molecular Mechanisms of Disease.
Prof. Dr. Frans P.M. Cremers

Research is directed towards the identification and characterisation of novel genes implicated in inherited retinal disorders such as retinitis pigmentosa, con-dystrophy, cone-rod dystrophy and Leber congenital amaurosis. Moreover, disorders of the vitreous and retina such as exudative vitreoretinopathy and retinal detachment are studied. The cloning of retinal disease genes leads to novel insights into the underlying molecular mechanisms of disease and facilitates routine molecular diagnostics. Moreover, in view of emerging therapeutics, identification of the genetic defects will identify patients eligible for gene- or mutation-specific therapies.
 
Recent key publications

Thiadens AAHJ, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RWJ, De Baere E, Koenekoop RK, Schooneveld MJ, Strom TM, van Lith-Verhoeven JJC, Lotery AJ, van Moll-Ramirez NG, Leroy BP, van den Born LI, Hoyng CB, *Cremers FPM & Klaver CCW Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am. J. Hum. Genet. 85:240-247, 2009. *Corresponding author.

Collin RWJ, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EAW, Strom TM, Hoyng CB, den Hollander AI, Cremers FPM. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am. J. Hum. Genet. 83:594-603, 2008

den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, de Beer M, Nagel-Wolfrum K, McKibbin,M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, Wijk, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum, U, Cheetham ME, Ueffing M, *Cremers FPM, *Inglehearn CF, *Roepman R. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis Nature Genetics, 39:889-895, 2007. *Joint last authors.

van den Hurk JAJM, Meij IC, del Carmen SM, Kano H, Nikopoulos K, Hoefsloot LH, Sistermans EA, de Wijs I, Mukhopadhyay A, Plomp AS, de Jong PT, Kazazian HH, Cremers FPM. L1 retrotransposition can occur early in human embryonic development. Hum. Mol. Genet. 16:1587-1592, 2007.

den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KEJ, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K & Cremers FPM. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am. J. Hum. Genet. 79:556-561, 2006.