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Researchers
  • Prof.  Dror Sharon
Prof Dror Sharon
 
Research Topics​
Identification of retinal disease genes in the Israeli population 

Inherited retinal diseases are caused by mutations in many different genes. Currently, we estimate that mutations in over 200 genes can cause human retinal diseases, including retinitis pigmentosa, Leber congenital amaurosis, cone-rod degeneration, Stargardt disease, Best disease, and many more. An extensive research effort aiming to identify these genes was conducted over the last twenty year mainly in the American and European populations. However, only limited information is available on the genetics of retinal diseases in the Israeli population and only lately others and we identified the most common causes of retinal degenerations in the Israeli Jewish population.
 
Our group is interested in genetic characterization of retinal diseases in the Israeli and Palestinian populations and in molecular analysis of retinal development.
 
As part of this genetic study, patients with inherited ocular diseases are referred to the genetic laboratory and clinical information is collected. Most patients are diagnosed by Prof. Eyal Banin, MD PhD. A blood sample (3-5 ml) is drawn from patients and family members for the genetic research.
 
Our long range purpose is to identify the cause of inherited retinal diseases in the vast majority of Israeli patients with retinal degenerations and to use the genetic information aiming to develop therapeutic modalities, such as gene therapy.
 
 
Selected Publications
Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Harel A, Strom TA, Merin S, Chowers I, Banin E, Sharon D. Mutations in CRB1 are a Relatively Common Cause of Autosomal Recessive Early-Onset Retinal Degeneration in the Israeli and Palestinian Populations. Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2068-75. doi: 10.1167/iovs.12-11419. PubMed PMID: 23449718.
 
Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E, Sharon D. Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss. PLoS One. 2012;7(12):e51566. doi: 10.1371/journal.pone.0051566. Epub 2012 Dec 12. PubMed PMID: 23251578; PubMed Central PMCID: PMC3520954.
 
Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ. BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Arch Ophthalmol. 2012 Nov;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434. PubMed PMID: 23143442.
 
Di Gioia SA, Letteboer SJ, Kostic C, Bandah-Rozenfeld D, Hetterschijt L, Sharon D, Arsenijevic Y, Roepman R, Rivolta C. FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. Hum Mol Genet. 2012 Dec 1;21(23):5174-84. doi: 10.1093/hmg/dds368. Epub 2012 Sep 1. PubMed PMID: 22940612.
 
Bitner H, Schatz P, Mizrahi-Meissonnier L, Sharon D, Rosenberg T. Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark. Am J Ophthalmol. 2012 Aug;154(2):403-412.e4. doi: 10.1016/j.ajo.2012.02.036. Epub 2012 May 24. PubMed PMID: 22633354.
 
Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E; European Retinal Disease Consortium, den Hollander AI, Klevering BJ, Cremers FP. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet. 2012 Jan 13;90(1):102-9. doi: 10.1016/j.ajhg.2011.11.015. Epub 2011 Dec 15. PubMed PMID: 22177090; PubMed Central PMCID: PMC3257957.
 
Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI; European Retinal Disease Consortium, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC. Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. Am J Hum Genet. 2011 Aug 12;89(2):253-64. doi: 10.1016/j.ajhg.2011.07.005. PubMed PMID: 21835304; PubMed Central PMCID: PMC3155188.
 
Bitner H, Mizrahi-Meissonnier L, Griefner G, Erdinest I, Sharon D, Banin E. A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. Invest Ophthalmol Vis Sci. 2011 Jul 18;52(8):5332-8. doi: 10.1167/iovs.11-7174. PubMed PMID: 21467170.
 
Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D. A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews. Am J Hum Genet. 2011 Feb 11;88(2):207-15. doi:10.1016/j.ajhg.2011.01.002. Epub 2011 Feb 3. PubMed PMID: 21295282; PubMed Central PMCID: PMC3035703.
 
Bandah-Rozenfeld D, Collin RW, Banin E, van den Born LI, Coene KL, Siemiatkowska AM, Zelinger L, Khan MI, Lefeber DJ, Erdinest I, Testa F, Simonelli F, Voesenek K, Blokland EA, Strom TM, Klaver CC, Qamar R, Banfi S, Cremers FP, Sharon D, den Hollander AI. Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet. 2010 Aug 13;87(2):199-208. doi: 10.1016/j.ajhg.2010.07.004. Epub 2010 Jul 30. PubMed PMID: 20673862; PubMed Central PMCID: PMC2917719.
 
Zelinger L, Greenberg A, Kohl S, Banin E, Sharon D. An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews. Hum Genet. 2010 Sep;128(3):261-7. doi: 10.1007/s00439-010-0846-z. Epub 2010 Jun 13. PubMed PMID: 20549516.
 
Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94. doi: 10.1167/iovs.09-4732. Epub 2010 Apr 7. PubMed PMID: 20375346.
 
Schatz P, Bitner H, Sander B, Holfort S, Andreasson S, Larsen M, Sharon D. Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4754-65. doi: 10.1167/iovs.10-5152. Epub 2010 Apr 7. PubMed PMID: 20375334.
 
Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D. Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array. Invest Ophthalmol Vis Sci. 2010 Aug;51(8):3884-92. doi: 10.1167/iovs.09-4592. Epub 2010 Mar 10. PubMed PMID: 20220053.
 
Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN Jr, Pierce EA, Inglehearn CF. Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am J Hum Genet. 2009 May;84(5):683-91. doi: 10.1016/j.ajhg.2009.04.005. Epub 2009 Apr 30. PubMed PMID: 19409519; PubMed Central PMCID: PMC2681008.
 
Bandah D, Merin S, Ashhab M, Banin E, Sharon D. The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients. Arch Ophthalmol. 2009 Mar;127(3):297-302. doi: 10.1001/archophthalmol.2008.615. PubMed PMID: 19273793.
 
Auslender N, Bandah D, Rizel L, Behar DM, Shohat M, Banin E, Allon-Shalev S, Sharony R, Sharon D, Ben-Yosef T. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. Genet Test. 2008 Jun;12(2):289-94. doi: 10.1089/gte.2007.0107. PubMed PMID: 18452394.
 
Bandah D, Rosenmann A, Blumenfeld A, Averbukh E, Banin E, Sharon D. A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia. Mol Vis. 2008 Jan 28;14:142-5. PubMed PMID: 18334930; PubMed Central PMCID: PMC2255027.
 
Auslender N, Sharon D, Abbasi AH, Garzozi HJ, Banin E, Ben-Yosef T. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5431-8. PubMed PMID: 18055789.
 
Beit-Ya'acov A, Mizrahi-Meissonnier L, Obolensky A, Landau C, Blumenfeld A, Rosenmann A, Banin E, Sharon D. Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4308-14. PubMed PMID: 17724221.
 
Bandah D, Swissa T, Ben-Shlomo G, Banin E, Ofri R, Sharon D. A complex expression pattern of Pax6 in the pigeon retina. Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2503-9. PubMed PMID: 17525177.
 
Banin E, Mizrahi-Meissonnier L, Neis R, Silverstein S, Magyar I, Abeliovich D, Roepman R, Berger W, Rosenberg T, Sharon D. A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. Am J Med Genet A. 2007 Jun 1;143A(11):1150-8. PubMed PMID: 17480003.
 
Kaiserman N, Obolensky A, Banin E, Sharon D. Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. Arch Ophthalmol. 2007 Feb;125(2):219-24. Erratum in: Arch Ophthalmol. 2007 Aug;125(8):1013. PubMed PMID: 17296898.
 
Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet. 2003 Nov;73(5):1131-46. Epub 2003 Oct 16. PubMed PMID: 14564670; PubMed Central PMCID: PMC1180492.
 
Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol. 2003 Sep;121(9):1316-23. PubMed PMID: 12963616.
 
Sharon D, Yamamoto H, McGee TL, Rabe V, Szerencsei RT, Winkfein RJ, Prinsen CF, Barnes CS, Andreasson S, Fishman GA, Schnetkamp PP, Berson EL, Dryja TP. Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1971-9. PubMed PMID: 12037007.
Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet. 2002 May 15;11(10):1219-27. Review. Erratum in: Hum Mol Genet. 2003 Mar 1;12(5):583-4. PubMed PMID: 12015282.
 
Sharon D, Blackshaw S, Cepko CL, Dryja TP. Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE). Proc Natl Acad Sci U S A. 2002 Jan 8;99(1):315-20. Epub 2001 Dec 26. PubMed PMID: 11756676; PubMed Central PMCID: PMC117558.
 
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