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Dr. Robert Koenekoop
Ophthalmology
Human retinal dystrophies (including Leber congenital amaurosis and retinitis pigmentosa) cause blindness in millions of people by photoreceptor death and are genetically and clinically heterogeneous.

Currently, over 50 genes have been identified (which describe approximately 50% of the patients), encoding retinal proteins that participate in a wide variety of crucial retinal functional pathways. At least half of the genes remain to be discovered. One of the known genes, RPE65, was recently replaced by subretinal injection of viral particles in a human clinical trial and shown to rescue both vision and photoreceptor function, giving a major impetus to finding all the retinal dystrophy genes. Our goals are to identify new genes that cause human blindness, using a wide variety of techniques including linkage analysis of large families, whole genome scanning and homozygosity mapping using SNP microarrays in single patients and candidate gene aprroaches.

This combined approach has allowed us to discover 5 new genes thus far, including CEP290, LCA5 and LCA3 for Leber congenital amaurosis and RP25 and TOPORS1 for retinitis pigmentosa. These new genes and their respective proteins have given new insights into both normal retinal functioning and the molecular mechanisms of retinal blindness. At the same time these new genes are candidates for further gene replacement in humans suffering from these devastating diseases.

Keywords
 
Blindness, hereditary retinal diseases, retinitis pigmentosa, Leber congenital amaurosis, genotype-phenotype correlations, SNP microarrays, homozygosity mapping, linkage analysis

Related articles
 
September 2012
 
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July 29, 2012
 
March 5, 2009
Discovery of a new retinal gene involved in childhood blindness - A team from the MUHC plays a key role in this discovery
The team of Dr. Robert Koenekoop which includes Dr. Irma Lopez from the Research Institute of the MUHC at the Montreal Children's Hospital played a crucial role in the international collaboration that led to the discovery of a new gene that causes Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP), two devastating forms of childhood blindness. +
 
February 2009
World-Class Research: An Important Part of The Montreal Children’s Hospital
Leading-edge researchers, pioneering work and the advancement of medical wisdom have made the MCH an important and dynamic key player on the international stage. +

December 3, 2008
$2.4 million towards gene therapy for human degenerative retinal diseases
A Canadian and American research group including the team of Dr. Robert Koenekoop from the Research Institute at the Montreal Children's Hospital of the MUHC has just been awarded $2.4 million from the Canadian Institutes of Health Research (CIHR) and the Foundation Fighting Blindness Canada (FFB). +
 
Department (s)
 
Selected publications

Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M, Finding of Rare Disease Genes (FORGE) Canada Consortium, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R. Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nature Genetics 2012 July. [doi:10.1038/ng.2356]
den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmol Vis Sci 48: 5690-5698, 2007.
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, 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, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nature Genetics 39: 889-895, 2007. Epub 2007 Jun 3.
den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am J Hum Genet. 79: 556-561, 2006. Epub 2006 Jul 11.
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