Construction of a genomic analysis system of an ocular orphan disease.

• Project/Area Number: 24592654
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Juntendo University
• Principal Investigator: FUJIMAKI Takuro 順天堂大学, 医学部, 准教授 (50333042)
• Co-Investigator(Kenkyū-buntansha): MURAKAMI Akira 順天堂大学, 医学部眼科学教室, 教授 (90157743)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000); Fiscal Year 2014: ¥260,000 (Direct Cost: ¥200,000、Indirect Cost: ¥60,000); Fiscal Year 2013: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000); Fiscal Year 2012: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
• Keywords: Genetics / Molecular genetics / Gene analysis / Orphan disease / Inherited eye disease / Sequencing / Micro Array / Mutation / 常染色体劣性網膜色素変性 / Leber先天黒内障 / 家族性滲出性硝子体網膜症 / Norrie病 / マイクロアレイ / MLPA法 / 変異 / 次世代シーケンサ / 国際情報交換、インドネシア / 国際情報交換、ベルギー

Outline of Final Research Achievements

Arai E, et al. Familial cases of Norrie disease detected by copy number analysis. JJO. 2014
Suzuki T, et al. A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with LCA. JJO. 2014

Research Products

• [Journal Article] Epilepsy Phenotypes in Siblings with Norrie Disease. (2015)
  • Author(s): Okumura A 他
  • Journal Title: Brain and Development Volume: 印刷中
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis. (2014)
  • Author(s): Suzuki T 他
  • Journal Title: Jpn J Ophthalmol. Volume: ５８ Issue: 6 Pages: 528-535
  • DOI: 10.1007/s10384-014-0339-z
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] Familial cases of Norrie disease detected by copy number analysis. (2014)
  • Author(s): Arai E 他
  • Journal Title: Jpn J Ophthalmol. Volume: ５８ Issue: 5 Pages: 448-454
  • DOI: 10.1007/s10384-014-0334-4
  • Peer Reviewed / Acknowledgement Compliant
• [Journal Article] 第117回日本眼科学会総会評議員会指名講演III 眼疾患と遺伝子 眼科遺伝子診療をめざした遺伝情報解析 (2014)
  • Author(s): 村上 晶
  • Journal Title: 日本眼科学会雑誌日眼会誌 Volume: 118 Pages: 283-98
  • Peer Reviewed
• [Presentation] Autosomal dominant cone-rod dystrophy with GUCY2D gene mutations in Japanese families. (2015)
  • Author(s): Fujimaki T
  • Organizer: Asia Association for Research in Vision and Ophthalmology
  • Place of Presentation: 横浜 インターコンチネンタルホテル
  • Year and Date: 2015-02-16 – 2015-02-19
• [Presentation] 小児眼疾患の遺伝 (2014)
  • Author(s): 藤巻拓郎
  • Organizer: 第６８回日本臨床眼科学会
  • Place of Presentation: 神戸 ポーピアホテル
  • Year and Date: 2014-11-13 – 2014-11-16
  • Invited
• [Presentation] Leber先天黒内障の病態と将来の治療 (2014)
  • Author(s): 藤巻拓郎
  • Organizer: 第６８回日本臨床眼科学会
  • Place of Presentation: 神戸 ポーピアホテル
  • Year and Date: 2014-11-13 – 2014-11-16
  • Invited
• [Presentation] A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis. (2014)
  • Author(s): Fujimaki T, et al.
  • Organizer: Association for Research in Vision and Ophthalmology: ARVO
  • Place of Presentation: 米国 フロリダ州 オーランド
  • Year and Date: 2014-05-03 – 2014-05-08
• [Presentation] NMNAT1 p.Arg237Cys mutation in Japanese patients with Leber congenital amaurosis. (2014)
  • Author(s): Tomoka Kambe, et al.
  • Organizer: WOC World Ophthalmology Congress
  • Place of Presentation: 東京 帝国ホテル
  • Year and Date: 2014-04-02 – 2014-04-06
• [Presentation] NMNAT1 p.Arg237Cys mutation in Japanese patients with Leber congenital. (2014)
  • Author(s): Tomoka Kambe, Takuro Fujimaki, Ai Yanagikawa, Keiko Fujiki, Akira Murakami.
  • Organizer: World Ophthalmology Congress
  • Place of Presentation: 東京
• [Presentation] Partial NMNAT1 deletions cause Leber Congenital AmaurosisView Session Detail. (2014)
  • Author(s): Frauke Coppieters, Takuro Fujimaki, Marieke De Bruyne, Annelot Baert, Mineo Kondo, Akira Murakami and Elfride De Baere.
  • Organizer: 視覚と眼科学研究協会会議 (ARVO)
  • Place of Presentation: 米国 オーランド
• [Presentation] A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis.View Session Detail (2014)
  • Author(s): Takuro Fujimaki, Takahide Suzuki, Ai Yanagawa, Eisuke Arai, Keiko Fujiki, Yuko Wada and Akira Murakami
  • Organizer: 視覚と眼科学研究協会会議 (ARVO)
  • Place of Presentation: 米国 オーランド
• [Presentation] Leber先天黒内障の病態と将来の治療 (2014)
  • Author(s): 藤巻拓郎
  • Organizer: 第68回日本臨床眼科学
  • Place of Presentation: 神戸
  • Invited
• [Presentation] RPGRIP1 エクソン17 の欠失を認めたレーベル先天盲の兄弟例 (2013)
  • Author(s): 鈴木貴英、藤巻拓郎、宮崎 愛、新井英介、根岸貴志、和田裕子、藤木慶子
  • Organizer: 第38回日本小児眼科学会総会
  • Place of Presentation: 広島
• [Presentation] NMNAT1 p.Arg237Cys mutation in Japanese patients with Leber congenital amaurosis. (2013)
  • Author(s): Tomoka Kambe, Takuro Fujimaki, Shuri Kawamorita, Eisuke Arai, Ai Miyazaki, Keiko Fujiki, Fumino Iwata, Chieko Tamura, Akira Murakami.
  • Organizer: 視覚と眼科学研究協会会議 (ARVO)
  • Place of Presentation: 米国 / シアトル
• [Presentation] 角膜混濁と高眼圧症を生じたムコ多糖症I型の一例 (2013)
  • Author(s): 神部友香、根岸貴志、藤巻拓郎、村上 晶
  • Organizer: 第38回日本小児眼科学会総会
  • Place of Presentation: 広島
• [Presentation] Genetic and clinical features of FEVR and Norrie disease (2013)
  • Author(s): Eisuke Arai, Takuro Fujimaki, Ai Miyazaki, Keiko Fujiki, Fumino Iwata, Takenori Inomata, Hiroyuki Kawano, Toshiyuki Yokoyama, Akihisa Okumura, Akira Murakami.
  • Organizer: 視覚と眼科学研究協会会議 (ARVO)
  • Place of Presentation: 米国 シアトル
• [Presentation] Leber先天盲を含む常染色体劣性網膜色素変性のマイクロアレイを用いた遺伝子解析 (2013)
  • Author(s): 藤巻拓郎 他
  • Organizer: 厚生労働省難治』性疾患克服研究事業 網膜脈絡膜･視神経萎縮症調査研究班 平成２４年度班会議
  • Place of Presentation: 名古屋市立大学
• [Presentation] 家族性滲出性硝子体網膜症とNorrie病における遺伝子解析と臨床像 (2013)
  • Author(s): 新井英介 他
  • Organizer: 厚生労働省難治』性疾患克服研究事業 網膜脈絡膜･視神経萎縮症調査研究班 平成２４年度班会議
  • Place of Presentation: 名古屋市立大学
• [Presentation] NMNAT1 p.Arg237Cys mutation in Japanese patients with Leber congenital amaurosis. (2013)
  • Author(s): Tomoka Kambe et al.
  • Organizer: The Association for Research in Vision and Ophthalmology.
  • Place of Presentation: Seattle, U. S. A.
• [Presentation] Genetic and clinical features of FEVR and Norrie disease. (2013)
  • Author(s): Eisuke Arai et al.
  • Organizer: The Association for Research in Vision and Ophthalmology.
  • Place of Presentation: Seattle, U. S. A.
• [Presentation] 乳児期より黄斑変性を認めたLeber先天盲の２例 (2012)
  • Author(s): 川守田珠里 他
  • Organizer: 第66回日本臨床眼科学会
  • Place of Presentation: 国立京都国際会館
• [Presentation] 家族性滲出性硝子体網膜症とNorrie病における遺伝子解析と臨床像 (2012)
  • Author(s): 新井英介 他
  • Organizer: 第66回日本臨床眼科学会
  • Place of Presentation: 国立京都国際会館
• [Book] 網膜変性疾患診療のすべて (2015)
  • Author(s): 藤巻拓郎
  • Publisher: 株式会社医学書院