Construction of Cynomologus Monkey Model for Hereditary Retinal Diseases : Diseases Mechanisms and Therapeutic

• Project/Area Number: 17H06276
• Research Category: Grant-in-Aid for Challenging Research (Pioneering)
• Allocation Type: Single-year Grants
• Research Field: Surgery related to the biological and sensory functions and related fields
• Research Institution: 独立行政法人国立病院機構(東京医療センター臨床研究センター)
• Principal Investigator: Iwata Takeshi 独立行政法人国立病院機構(東京医療センター臨床研究センター), 分子細胞生物学研究部, 部長 (90374157)
• Co-Investigator(Kenkyū-buntansha): 溝田 淳 帝京大学, 医学部, 教授 (10239262) ; 下澤 律浩 国立研究開発法人医薬基盤・健康・栄養研究所, 医薬基盤研究所 霊長類医科学研究センター, 主任研究員 (50300786)
• Project Period (FY): 2017-06-30 – 2020-03-31
• Project Status: Completed (Fiscal Year 2020)
• Budget Amount: ¥26,000,000 (Direct Cost: ¥20,000,000、Indirect Cost: ¥6,000,000); Fiscal Year 2019: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000); Fiscal Year 2018: ¥10,400,000 (Direct Cost: ¥8,000,000、Indirect Cost: ¥2,400,000); Fiscal Year 2017: ¥10,400,000 (Direct Cost: ¥8,000,000、Indirect Cost: ¥2,400,000)
• Keywords: 医歯薬学 / 外科系臨床医学 / 眼科学 / 生化学・分子生物学 / ドルーゼン / 眼生化学・分子生物学

Outline of Final Research Achievements

The human eye has unique structure only common to higher primates. Many of the inherited retinal diseases such as macular dystrophy and inherited glaucoma are difficult to replicate in mouse eye. Recent gene editing technology has revolutionized the development of knock-in or knock-out disease mice. However, gene edited non-human primate for inherited eye diseases has not been successful. In this project, we used Platinum TALEN technology developed by Dr. Yamamoto and Dr. Sakuma at Hiroshima University to develop autosomal recessive retinal diseases including retinitis pigmentosa, macular dystrophy, Leber congenital amaurosis, and inherited glaucoma. We have successfully designed the vector and injected and tested with fertilized egg from cynomolgus macaque monkey. Approximately, 80% of egg were gene edited, which shows significant increase of efficiency over CRISPR/Cas9, which we previously tried for over 5 years. We now have pregnant macaque for 2021 delivery.

Academic Significance and Societal Importance of the Research Achievements

本研究によってカニクイザルの遺伝子改変技術が確立されれば、霊長類を利用した世界的な標準技術として定着する可能性が高い。遺伝子改変カニクイザルの作製によって貴重な実験材料の供給源になり、薬剤治療、遺伝子治療、再生医療、人工網膜などの治療開発に広く利用されることが期待される。カニクイザルは世界的に実験動物として利用されているアカゲザルと同様にマカカ属に分類される旧世界の霊長類であり、そのゲノム配列の相同性もきわめて高い。

Research Products

• [Journal Article] Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2 (2021)
  • Author(s): Yang L, Joo K, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Arno G, Pontikos N, Liu X, Nakamura N, Kurihara T, Tsubota K, Iwata T, Li H, Zou X, Wu S, Sun Z, Ahn SJ, Kim MS, Mun YS, Park KH, Robson AG, Miyake Y, Woo SJ, Sui R, Fujinami K; East Asia Inherited Retinal Disease Society Study Group
  • Journal Title: Am J Ophthalmol Volume: 221 Pages: 169-180
  • DOI: 10.1016/j.ajo.2020.07.025
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] The Serine Protease HTRA-1 Is a Biomarker for ROP and Mediates Retinal Neovascularization (2020)
  • Author(s): Owen Leah A.、Shirer Kinsey、Collazo Samuel A.、Szczotka Kathryn、Baker Shawna、Wood Blair、Carroll Lara、Haaland Benjamin、Iwata Takeshi、Katikaneni Lakshmi D.、DeAngelis Margaret M.
  • Journal Title: Frontiers in Molecular Neuroscience Volume: 13 Pages: 605918-605918
  • DOI: 10.3389/fnmol.2020.605918
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families (2020)
  • Author(s): Hayashi Takaaki、Kameya Shuhei、Mizobuchi Kei、Kubota Daiki、Kikuchi Sachiko、Yoshitake Kazutoshi、Mizota Atsushi、Murakami Akira、Iwata Takeshi、Nakano Tadashi
  • Journal Title: Scientific Reports Volume: 10 Issue: 1 Pages: 15883-15883
  • DOI: 10.1038/s41598-020-72623-1
  • Peer Reviewed / Open Access
• [Journal Article] RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association. (2020)
  • Author(s): Fujinami K, Liu X, Ueno S, Mizota A, Shinoda K, Kuniyoshi K, Fujinami-Yokokawa Y, Yang L, Arno G, Pontikos N, Kameya S, Kominami T, Terasaki H, Sakuramoto H, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Yoshiake K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium Study Group.
  • Journal Title: Am J Med Genet C Semin Med Genet. Volume: 184 Issue: 3 Pages: 675-693
  • DOI: 10.1002/ajmg.c.31830
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Clinical and Genetic Characteristics of 15 Affected Patients From 12 Japanese Families with GUCY2D-Associated Retinal Disorder (2020)
  • Author(s): Liu X, Fujinami K, Kuniyoshi K, Kondo M, Ueno S, Hayashi T, Mochizuki K, Kameya S, Yang L, Fujinami-Yokokawa Y, Arno G, Pontikos N, Sakuramoto H, Kominami T, Terasaki H, Katagiri S, Mizobuchi K, Nakamura N, Yoshitake K, Miyake Y, Li S, Kurihara T, Tsubota K, Iwata T, Tsunoda K; Japan Eye Genetics Consortium
  • Journal Title: Transl Vis Sci Technol Volume: 11 Issue: 6 Pages: 2-2
  • DOI: 10.1167/tvst.9.6.2
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Clinical and genetic characteristics of 10 Japanese patients with PROM1-associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population. (2020)
  • Author(s): Fujinami K, Oishi A, Yang L, Arno G, Pontikos N, Yoshitake K, Fujinami-Yokokawa Y, Liu X, Hayashi T, Katagiri S, Mizobuchi K, Mizota A, Shinoda K, Nakamura N, Kurihara T, Tsubota K, Miyake Y, Iwata T, Tsujikawa A, Tsunoda K; Japan Eye Genetics Consortium study group.
  • Journal Title: Am J Med Genet C Semin Med Genet. Volume: 184 Issue: 3 Pages: 656-674
  • DOI: 10.1002/ajmg.c.31826
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Progress of macular atrophy during 30 months’ follow-up in a patient with spinocerebellar ataxia type1 (SCA1) (2020)
  • Author(s): Hirose Ayane、Katagiri Satoshi、Hayashi Takaaki、Matsuura Tomokazu、Nagai Norihiro、Fujinami Kaoru、Iwata Takeshi、Tsunoda Kazushige
  • Journal Title: Documenta Ophthalmologica Volume: 142 Issue: 1 Pages: 87-98
  • DOI: 10.1007/s10633-020-09782-z
  • Peer Reviewed
• [Journal Article] Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association (2020)
  • Author(s): Fujinami-Yokokawa Y, Fujinami K, Kuniyoshi K, Hayashi T, Ueno S, Mizota A, Shinoda K, Arno G, Pontikos N, Yang L, Liu X, Sakuramoto H, Katagiri S, Mizobuchi K, Kominami T, Terasaki H, Nakamura N, Kameya S, Yoshitake K, Miyake Y, Kurihara T, Tsubota K, Miyata H, Iwata T, Tsunoda K; Japan Eye Genetics Consortium.
  • Journal Title: Sci Rep Volume: 12 Issue: 1 Pages: 9531-9531
  • DOI: 10.1038/s41598-020-65737-z
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings (2020)
  • Author(s): Mizobuchi Kei、Hayashi Takaaki、Yoshitake Kazutoshi、Fujinami Kaoru、Tachibana Toshiaki、Tsunoda Kazushige、Iwata Takeshi、Nakano Tadashi
  • Journal Title: Molecular Genetics & Genomic Medicine Volume: 8 Issue: 8
  • DOI: 10.1002/mgg3.1308
  • Peer Reviewed / Open Access
• [Journal Article] RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort. (2020)
  • Author(s): Katagiri S, Hayashi T, Nakamura M, Mizobuchi K, Gekka T, Komori S, Ueno S, Terasaki H, Sakuramoto H, Kuniyoshi K, Kusaka S, Nagashima R, Kondo M, Fujinami K, Tsunoda K, Matsuura T, Kondo H, Yoshitake K, Iwata T, Nakano T.
  • Journal Title: Investigative Ophthalmology & Visual Science Volume: 61 Issue: 3 Pages: 53-53
  • DOI: 10.1167/iovs.61.3.53
  • Peer Reviewed / Open Access
• [Journal Article] Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency. (2020)
  • Author(s): Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N, Shinoda K, Kameya S, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Kominami T, Terasaki H, Sakuramoto H, Katagiri S, Mizobuchi K, Nakamura N, Mawatari G, Kurihara T, Tsubota K, Miyake Y, Yoshitake K, Iwata T, Tsunoda K; JEGC study group.
  • Journal Title: Sci Rep. Volume: 10 Issue: 1 Pages: 1-10
  • DOI: 10.1038/s41598-020-62119-3
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Genetic variants associated with the onset and progression of primary open-angle glaucoma (2020)
  • Author(s): Mabuchi F, Mabuchi N, Sakurada Y, Yoneyama S, Kashiwagi K, Iijima H, Yamagata Z, Takamoto M, Aihara M, Iwata T, Hashimoto K, Sato K, Shiga Y, Nishiguchi KM, Nakazawa T, Akiyama M, Kawase K, Ozaki M, Araie M, Japan Glaucoma Society Omics Group (JGS-OG)
  • Journal Title: American Journal of Ophthalmology Volume: 212 Pages: 135-140
  • DOI: 10.1016/j.ajo.2020.03.014
  • Peer Reviewed
• [Journal Article] Clinical Course and Electron Microscopic Findings in Lymphocytes of Patients with DRAM2-Associated Retinopathy (2020)
  • Author(s): Kuniyoshi Kazuki、Hayashi Takaaki、Kameya Shuhei、Katagiri Satoshi、Mizobuchi Kei、Tachibana Toshiaki、Kubota Daiki、Sakuramoto Hiroyuki、Tsunoda Kazushige、Fujinami Kaoru、Yoshitake Kazutoshi、Iwata Takeshi、Nakano Tadashi、Kusaka Shunji
  • Journal Title: International Journal of Molecular Sciences Volume: 21 Issue: 4 Pages: 1331-1331
  • DOI: 10.3390/ijms21041331
  • Peer Reviewed / Open Access
• [Journal Article] Correction to: Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variants. (2020)
  • Author(s): Mawatari G, Fujinami K, Liu X, Yang L, Fujinami-Yokokawa Y, Komori S, Ueno S, Terasaki H, Katagiri S, Hayashi T, Kuniyoshi K, Miyake Y, Tsunoda K, Yoshitake K, Iwata T, Nao-I N; JEGC study group.
  • Journal Title: Human Genome Varriation Volume: 7 Issue: 1 Pages: 1-3
  • DOI: 10.1038/s41439-019-0086-2
  • Peer Reviewed / Open Access
• [Journal Article] Heterozygous GGC repeat expansion of NOTCH2NLC in a patient with neuronal intranuclear inclusion disease and progressive retinal dystrophy (2020)
  • Author(s): Hayashi Takaaki、Katagiri Satoshi、Mizobuchi Kei、Yoshitake Kazutoshi、Kameya Shuhei、Matsuura Tomokazu、Iwata Takeshi、Nakano Tadashi
  • Journal Title: Ophthalmic Genetics Volume: 41 Issue: 1 Pages: 93-95
  • DOI: 10.1080/13816810.2020.1723119
  • Peer Reviewed
• [Journal Article] Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy. (2020)
  • Author(s): Li H, Yuan S, Minegishi Y, Suga A, Yoshitake K, Sheng X, Ye J, Smith S, Bunkoczi G, Yamamoto M, Iwata T
  • Journal Title: Human Molecular Genetics Volume: 29 Issue: 3 Pages: 444-458
  • DOI: 10.1093/hmg/ddz311
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses. (2019)
  • Author(s): Kutsuma T, Katagiri S, Hayashi T, Yoshitake K, Iejima D, Gekka T, Kohzaki K, Mizobuchi K, Baba Y, Terauchi R, Matsuura T, Ueno S, Iwata T, Nakano T.
  • Journal Title: Doc Ophthalmol. Volume: 138(3) Issue: 3 Pages: 229-239
  • DOI: 10.1007/s10633-019-09679-6
  • Peer Reviewed
• [Journal Article] High-Resolution Retinal Imaging Reveals Preserved Cone Photoreceptor Density and Choroidal Thickness in Female Carriers of Choroideremia. (2019)
  • Author(s): Suzuki K, Gocho K, Akeo K, Kikuchi S, Kubota D, Katagiri S, Fujinami K, Tsunoda K, Iwata T, Yamaki K, Igarashi T, Nakano T, Takahashi H, Hayashi T, Kameya S.
  • Journal Title: Ophthalmic Surg Lasers Imaging Retina. Volume: 50(2) Issue: 2 Pages: 76-85
  • DOI: 10.3928/23258160-20190129-03
  • Peer Reviewed / Open Access
• [Journal Article] Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis (2019)
  • Author(s): Kondo Hiroyuki、Oku Kazuma、Katagiri Satoshi、Hayashi Takaaki、Nakano Tadashi、et al.
  • Journal Title: Human Genome Variation Volume: 6 Issue: 1 Pages: 3-3
  • DOI: 10.1038/s41439-018-0034-6
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X) (2019)
  • Author(s): Mizobuchi Kei、Katagiri Satoshi、Hayashi Takaaki、Yoshitake Kazutoshi、Fujinami Kaoru、Kuniyoshi Kazuki、Mishima Reimi、Tsunoda Kazushige、Iwata Takeshi、Nakano Tadashi
  • Journal Title: American Journal of Ophthalmology Case Reports Volume: 13 Pages: 110-115
  • DOI: 10.1016/j.ajoc.2018.12.019
  • Peer Reviewed / Open Access
• [Journal Article] Three cases of acute-onset bilateral photophobia (2019)
  • Author(s): Ueno Shinji、Inooka Daiki、Meinert Monika、Ito Yasuki、Tsunoda Kazushige、Fujinami Kaoru、Iwata Takeshi、Ohde Hisao、Terasaki Hiroko
  • Journal Title: Japanese Journal of Ophthalmology Volume: 63 Issue: 2 Pages: 172-180
  • DOI: 10.1007/s10384-018-00649-0
  • Peer Reviewed / Open Access
• [Journal Article] Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Loken syndrome. (2018)
  • Author(s): Katagiri S, Hayashi T, Yoshitake K, Murai N, Matsui Z, Kubo H, Satoh H, Matsufuji S, Takamura T, Yokoo T, Omori Y, Furukawa T, Iwata T, Nakano T.
  • Journal Title: Sci Rep. Volume: 8 Pages: 16733-16733
  • Peer Reviewed
• [Journal Article] CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. (2018)
  • Author(s): Nakanishi A, Ueno S, Hayashi T, Katagiri S, Ito Y, Kominami T, Fujinami K, Tsunoda K, Iwata T, Terasaki H.
  • Journal Title: Retina. Volume: 218 Issue: 1 Pages: 1782-1787
  • DOI: 10.1097/iae.0000000000002363
  • Peer Reviewed
• [Journal Article] Optineurin E50K triggers BDNF deficiency-mediated mitochondrial dysfunction in retinal photoreceptor cell line. (2018)
  • Author(s): Shim MS, Kim KY, Noh M, Ko JY, Ahn S, An MA, Iwata T, Perkins GA, Weinreb RN, Ju WK.
  • Journal Title: Biochem Biophys Res Commun. Volume: 503(4) Issue: 4 Pages: 2690-2697
  • DOI: 10.1016/j.bbrc.2018.08.025
  • Peer Reviewed
• [Journal Article] KUS121, an ATP regulator, mitigates chorioretinal pathologies in animalmodels of age-related macular degeneration. (2018)
  • Author(s): Muraoka, Y., Yoshimura, N., et al.
  • Journal Title: Heliyon Volume: 4 Issue: 5 Pages: e00624-e00624
  • DOI: 10.1016/j.heliyon.2018.e00624
  • Peer Reviewed / Open Access
• [Journal Article] Effect of Timolol on Optineurin Aggregation in Transformed Induced Pluripotent Stem Cells Derived From Patient With Familial Glaucoma. (2018)
  • Author(s): Inagaki S, Kawase K, Funato M, Seki J, Kawase C, Ohuchi K, Kameyama T, Ando S, Sato A, Morozumi W, Nakamura S, Shimazawa M, Iejima D, Iwata T, Yamamoto T, Kaneko H, Hara H.
  • Journal Title: Invest Ophthalmol Vis Sci. Volume: 59(6) Issue: 6 Pages: 2293-2304
  • DOI: 10.1167/iovs.17-22975
  • Peer Reviewed / Open Access
• [Journal Article] LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells. (2018)
  • Author(s): Kawamura Y, Suga A, Fujimaki T, Yoshitake K, Tsunoda K, Murakami A, Iwata T.
  • Journal Title: J Hum Genet. Volume: 63(8) Issue: 8 Pages: 893-900
  • DOI: 10.1038/s10038-018-0465-4
  • Peer Reviewed
• [Journal Article] POSTERIOR STAPHYLOMAS IN EYES WITH RETINITIS PIGMENTOSA WITHOUT HIGH MYOPIA (2018)
  • Author(s): Xu Xian、Fang Yuxin、Yokoi Tae、Shinohara Kosei、Hirakata Akito、Iwata Takeshi、Tsunoda Kazushige、Jonas Jost B.、Ohno-Matsui Kyoko
  • Journal Title: Retina Volume: ー Issue: 7 Pages: 1-1
  • DOI: 10.1097/iae.0000000000002180
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. (2018)
  • Author(s): Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y.
  • Journal Title: Mol Vis. Volume: 24 Pages: 286-296
  • Peer Reviewed
• [Journal Article] Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly) (2018)
  • Author(s): Katagiri Satoshi、Hayashi Takaaki、Mizobuchi Kei、Yoshitake Kazutoshi、Iwata Takeshi、Nakano Tadashi
  • Journal Title: Ophthalmic Genetics Volume: 39 Issue: 3 Pages: 357-365
  • DOI: 10.1080/13816810.2018.1459737
  • Peer Reviewed
• [Journal Article] Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma (2018)
  • Author(s): Shiga Yukihiro、Kashiwagi Kenji、Nakazawa Toru、Kubo Michiaki、Japan Glaucoma Society Omics Group (JGS-OG)、NEIGHBORHOOD Consortium
  • Journal Title: Human Molecular Genetics Volume: 27 Issue: 8 Pages: 1486-1496
  • DOI: 10.1093/hmg/ddy053
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Development of genotyping method for functionally relevant variants of cytochromes P450 in cynomolgus macaques. (2018)
  • Author(s): Uno Y, Osada N, Sakurai S, Shimozawa N, Iwata T, Ikeo K, Yamazaki H.
  • Journal Title: J Vet Pharmacol Ther. Volume: 41 Issue: 1
  • DOI: 10.1111/jvp.12443
  • Peer Reviewed / Open Access
• [Journal Article] Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy. (2018)
  • Author(s): Khan KN, Kasilian M, Mahroo OAR, Tanna P, Kalitzeos A, Robson AG, Tsunoda K, Iwata T, Moore AT, Fujinami K, Michaelides M.
  • Journal Title: Ophthalmology Volume: 125(5) Issue: 5 Pages: 735-746
  • DOI: 10.1016/j.ophtha.2017.11.020
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Genetic analysis of Japanese primary open-angle glaucoma patients and clinical characterization of risk alleles near CDKN2B-AS1, SIX6 and GAS7 (2017)
  • Author(s): Shiga Yukihiro、Kashiwagi Kenji、Nakazawa Toru、for the Japan Glaucoma Society Omics Group (JGS-OG)
  • Journal Title: PLOS ONE Volume: 12 Issue: 12 Pages: e0186678-e0186678
  • DOI: 10.1371/journal.pone.0186678
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants (2017)
  • Author(s): Kominami Azusa、Ueno Shinji、Kominami Taro、Nakanishi Ayami、Ito Yasuki、Fujinami Kaoru、Tsunoda Kazushige、Hayashi Takaaki、Kikuchi Sachiko、Kameya Shuhei、Iwata Takeshi、Terasaki Hiroko
  • Journal Title: Ophthalmic Genetics Volume: 39 Issue: 2 Pages: 255-262
  • DOI: 10.1080/13816810.2017.1408846
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Parafoveal Photoreceptor Abnormalities in Asymptomatic Patients With RP1L1 Mutations in Families With Occult Macular Dystrophy. (2017)
  • Author(s): Kato Y, Hanazono G, Fujinami K, Hatase T, Kawamura Y, Iwata T, Miyake Y, Tsunoda K.
  • Journal Title: Invest Ophthalmol Vis Sci Volume: 58(14) Issue: 14 Pages: 6020-6029
  • DOI: 10.1167/iovs.17-21969
  • Peer Reviewed
• [Journal Article] Purinergic dysregulation causes hypertensive glaucoma-like optic neuropathy. (2017)
  • Author(s): Shinozaki Y, Kashiwagi K, Namekata K, Takeda A, Ohno N, Robaye B, Harada T, Iwata T, *Koizumi S
  • Journal Title: JCI Insight Volume: 2 Issue: 19
  • DOI: 10.1172/jci.insight.93456
  • Peer Reviewed / Open Access / Int'l Joint Research
• [Journal Article] Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females (2017)
  • Author(s): Fiorentino Alessia、Fujinami Kaoru、(Hayashi Takaaki)、Iwata Takeshi、Parker Matthew、Webster Andrew R.、Michaelides Michel、Hardcastle Alison J.、for the 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium
  • Journal Title: Human Mutation Volume: 39 Issue: 1 Pages: 80-91
  • DOI: 10.1002/humu.23349
  • Peer Reviewed / Int'l Joint Research
• [Journal Article] Genetic Variant Near PLXDC2 Influences the Risk of Primary Open-angle Glaucoma by Increasing Intraocular Pressure in the Japanese Population. (2017)
  • Author(s): Mabuchi F, Mabuchi N, Takamoto M, Sakurada Y, Yoneyama S, Kashiwagi K, Iijima H, Yamagata Z, Aihara M, Iwata T, Araie M. Japan Glaucoma Society Omics Group (JGS-OG).
  • Journal Title: J Glaucoma Volume: 26(11) Issue: 11 Pages: 963-966
  • DOI: 10.1097/ijg.0000000000000790
  • Peer Reviewed
• [Journal Article] A prospective multicenter study on genome wide associations to ranibizumab treatment outcome for age-related macular degeneration. (2017)
  • Author(s): Yamashiro K, Mori K, Honda S, Kano M, Yanagi Y, Obana A, Sakurada Y, Sato T, Nagai Y, Hikichi T, Kataoka Y, Hara C, Koyama Y, Koizumi H, Yoshikawa M, Miyake M, Nakata I, Tsuchihashi T, Horie-Inoue K, et al.
  • Journal Title: Sci Rep Volume: 7(1) Issue: 1 Pages: 9196-9196
  • DOI: 10.1038/s41598-017-09632-0
  • Peer Reviewed / Open Access
• [Journal Article] Additive effects of genetic variants associated with intraocular pressure in primary open-angle glaucoma. (2017)
  • Author(s): Mabuchi F, Mabuchi N, Sakurada Y, Yoneyama S, Kashiwagi K, Iijima H, Yamagata Z, Takamoto M, Aihara M, Iwata T, Kawase K, Shiga Y, Nishiguchi KM, Nakazawa T, Ozaki M, Araie M; Japan Glaucoma Society Omics Group (JGS-OG).
  • Journal Title: PLoS One. Volume: 12(8) Issue: 8 Pages: e0183709-e0183709
  • DOI: 10.1371/journal.pone.0183709
  • Peer Reviewed / Open Access
• [Journal Article] Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy. (2017)
  • Author(s): Hayashi T, Sasano H, Katagiri S, Tsunoda K, Kameya S, Nakazawa M, Iwata T, Tsuneoka H.
  • Journal Title: Jpn J Ophthalmol. Volume: 61 Issue: 5 Pages: 483-488
  • DOI: 10.1007/s10384-017-0522-0
  • Peer Reviewed
• [Presentation] Malonyl-CoA-Acyl Carrier Protein Transacylase Provoke Autosomal Recessive Optic Neuropathy (2020)
  • Author(s): Takeshi Iwata, Huiping Li, Shiqin Yuan, Yuriko Minegishi, Akiko Suga, Kazutoshi Yoshitake, Xunlun Sheng, Jianping Ye, Stuart Smith, Gabor Bunkoczi, Megumi Yamamoto.
  • Organizer: The Association for Research in Vision and Ophthalmology (ARVO) Virtual Meeting
  • Int'l Joint Research
• [Presentation] GEGC research plans in Africa and the Middle East. (2020)
  • Author(s): Takeshi Iwata.
  • Organizer: World Ophthalmology Congress (WOC) Virtual Meeting
  • Int'l Joint Research / Invited
• [Presentation] シンポジウム5 網膜視神経細胞死のメカニズム：ゲノム解析から発症分子機序の解明 (2020)
  • Author(s): 岩田岳
  • Organizer: 第31回バーチャル日本緑内障学会
  • Invited
• [Presentation] 遺伝性網膜疾患の症例・ゲノム情報の収集：日本から世界への展開 (2020)
  • Author(s): 岩田岳
  • Organizer: 第74回バーチャル・国立病院総合医学会
  • Invited
• [Presentation] Novel Mutations in Malonyl-CoA-Acyl Carrier Protein Transacylase Provoke Autosomal Recessive Optic Neuropathy (2020)
  • Author(s): Takeshi Iwata, Huiping Li, Shiqin Yuan, Yuriko Minegishi, Akiko Suga, Kazutoshi Yoshitake, Xunlun Sheng, Jianping Ye, Stuart Smith, Gabor Bunkoczi, Megumi Yamamoto.
  • Organizer: American Society for Human Genetics (ASHG) Virtual Meeting
  • Int'l Joint Research
• [Presentation] Update on the Global Eye Genetics Consortium (2018)
  • Author(s): Takeshi Iwata
  • Organizer: XIVth Biennial SAARC Academy of Opththalmology (SAO) Conference
  • Int'l Joint Research / Invited
• [Presentation] Establishment of Asian Eye Genetics Consortium (AEGC, http://asiangenetics.) by 20 countries (2018)
  • Author(s): Takeshi Iwata
  • Organizer: XIVth Biennial SAARC Academy of Opththalmology (SAO) Conference
  • Int'l Joint Research / Invited
• [Presentation] Identifying novel genes for hereditary retinal diseases and development of drug for glaucoma from the Japan Eye Genetics Consortium (2018)
  • Author(s): Takeshi Iwata
  • Organizer: XIVth Biennial SAARC Academy of Opththalmology (SAO) Conference
  • Int'l Joint Research / Invited
• [Presentation] Asia and the Global Eye Genetics Consortium: A research based consortium for advances in vision research (2018)
  • Author(s): Takeshi Iwata
  • Organizer: he Founding Conference of the Global Eye Genetics Consortium （GEGC）Chinese Branch & The First Academic Confernce on Eye Genetics Disease
  • Int'l Joint Research / Invited
• [Presentation] [KEY NOTE TALK]Neuroprotection of Optineurin E50K Knok-in Mice with Normal Tension Glaucoma by TBK1 Inhibitor Amlexanox (2018)
  • Author(s): Takeshi Iwata
  • Organizer: ARVO India 2018
  • Int'l Joint Research / Invited
• [Presentation] Animal Models for Eye Diseases (2018)
  • Author(s): Takeshi Iwata
  • Organizer: ARVO India
  • Int'l Joint Research / Invited
• [Presentation] Age-related Macular Degeneration (2018)
  • Author(s): Takeshi Iwata
  • Organizer: ARVO India
  • Int'l Joint Research / Invited
• [Presentation] Mechanisms of transcriptional regulation by ARMS2/HTRA1 haplotype as risk factor for age-rerated macular degeneration (2018)
  • Author(s): Takeshi Iwata
  • Organizer: International Symposium on Retinal Degeneration 2018
  • Int'l Joint Research / Invited
• [Presentation] Molecular characteristic of macular suscepribility for dysfunction and degeneration (2018)
  • Author(s): Takeshi Iwata
  • Organizer: International Society for Eye Research 2018
  • Int'l Joint Research / Invited
• [Presentation] ARMS2/HTRA1 as Potential Theraperutic Target for Age-related Macular Degeneration (2018)
  • Author(s): Takeshi Iwata
  • Organizer: International Society for Eye Research 2018
  • Int'l Joint Research / Invited
• [Presentation] 緑内障遺伝子解析から個別医療へ (2018)
  • Author(s): 岩田岳
  • Organizer: 第29回日本緑内障学会
  • Invited
• [Presentation] Global Eye Genetics Consortium (GEGC) (2018)
  • Author(s): Takeshi Iwata
  • Organizer: All India Ophthalmological Society Conference 2018
  • Int'l Joint Research / Invited
• [Presentation] Global Eye Genetics Consortium (GEGC) (2018)
  • Author(s): Takeshi Iwata
  • Organizer: Asia-Pacific Academy of Ophthalmology Congress 2019
  • Int'l Joint Research / Invited
• [Presentation] 座長：基礎研究から病態を捉える (2018)
  • Author(s): 岩田岳
  • Organizer: Retinal Research Forum 2018
  • Invited
• [Presentation] Asian Eye Genetics Consortium. (2018)
  • Author(s): Takeshi Iwata
  • Organizer: APAO 2018
  • Int'l Joint Research / Invited
• [Presentation] Establishment of the Asian Eye Genetics Consortium to Study Eye Diseases Associated with Gene Sequence. Introduction of Network and Finding of Novel Genes Responsible for LCA, Optic Neuropathy, and Others. (2018)
  • Author(s): Takeshi Iwata
  • Organizer: APAO 2018
  • Invited
• [Presentation] HTRA1 as Potential Therapeutic Target for Age-Related Macular Degeneration. (2018)
  • Author(s): Takeshi Iwata
  • Organizer: APAO 2018
• [Presentation] Establishment and Activity of the Asian Eye Genetics Consortium (AEGC).<Poster Session> (2018)
  • Author(s): Takeshi Iwata
  • Organizer: HGM 2018
  • Int'l Joint Research
• [Presentation] Optimized Homology Directed Repair for Treatment of Inherited Retinal Diseases Using the CRISPR/Cas9 System.<Poster Session> (2018)
  • Author(s): Takeshi Iwata
  • Organizer: HGM 2018
  • Int'l Joint Research
• [Presentation] Asian Eye Genetics Consortium: International collaboration to accelerate identification of novel disease-causing genes. (2017)
  • Author(s): Takeshi Iwata
  • Organizer: ARVO-Asia 2017
  • Int'l Joint Research
• [Presentation] International Collaborations to Identify Novel Genes Responsible for Hereditary Retinal Diseases in the Asia Population. (2017)
  • Author(s): Takeshi Iwata
  • Organizer: APAO Conress2017
  • Int'l Joint Research / Invited
• [Presentation] 新規緑内障遺伝子や発症機序からの薬剤開発 (2017)
  • Author(s): 岩田 岳
  • Organizer: 第121回日本眼科学会総会
  • Invited
• [Presentation] 遺伝性網脈絡膜疾患の網羅的解析：オールジャパンからアジアへの展開 (2017)
  • Author(s): 岩田 岳
  • Organizer: バイエル レチナアワード、第121回日本眼科学会総会
  • Invited
• [Presentation] Coordinated Strategy for Genetic Eye Research in Asia and the Pasific. (2017)
  • Author(s): Takeshi Iwata
  • Organizer: ARVO 2017
  • Int'l Joint Research
• [Presentation] International network in eye disease-the Asian Eye Genetics Consortium (AEGC). <Poster Session> (2017)
  • Author(s): Takeshi Iwata
  • Organizer: ARVO 2017
  • Int'l Joint Research
• [Presentation] 全エクソーム解析による遺伝性網膜疾患の病因・病態機序の解明 (2017)
  • Author(s): 岩田 岳
  • Organizer: 第71回日本臨床眼科学会
• [Book] Advances in Vision Research Volume II, Essentials in Ophthalmology (2018)
  • Author(s): Gyan Prakash and Takeshi Iwata (Eds)
  • Total Pages: 468
  • Publisher: Springer Nature
  • ISBN: 9789811308833
• [Book] 遺伝子医学 MOOK (2018)
  • Author(s): 須賀晶子、吉武和敏、岩田岳（編集：松本直道、難波栄二、古川洋一）
  • Total Pages: 216
  • Publisher: オミックス解析による遺伝性網脈絡膜疾患の病因・病態機序の解明、臨床応用に向けた疾患シークエンス解析
  • ISBN: 9784944157280
• [Book] Advances in Vision Research, Volume I (2017)
  • Author(s): Prakash, Gyan, Iwata, Takeshi (Eds.)
  • Total Pages: 523
  • Publisher: Springer
  • ISBN: 9784431565116
• [Remarks] 独立行政法人国立病院機構東京医療センター 感覚器センター 分子細胞生物学研究部
  • URL: http://www.kankakuki.go.jp/lab_e.html
• [Remarks] Iwata Laboratory
  • URL: http://www.iwatalab.org/
• [Remarks] 独立行政法人国立病院機構東京医療センター 感覚器センター 分子細胞生物学研究部
  • URL: http://www.kankakuki.go.jp/lab_e.html
• [Patent(Industrial Property Rights)] 加齢黄斑変性の診断マーカー、診断キット、診断補助方法、及び、発症リスク判定方法 (2018)
  • Inventor(s): 岩田岳、野田徹、家島大輔
  • Industrial Property Rights Holder: 岩田岳、野田徹、家島大輔
  • Industrial Property Rights Type: 特許
  • Filing Date: 2018