Targeted exome sequencing for the genotyping of inherited retinal dystrophy

• Project/Area Number: 26861445
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Ophthalmology
• Research Institution: Kyoto University
• Principal Investigator: Ogino Ken 京都大学, 医学(系)研究科(研究院), 助教 (70622629)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Project Status: Completed (Fiscal Year 2015)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000); Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000); Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
• Keywords: 網膜色素変性 / 錐体-桿体ジストロフィー / 遺伝子検査 / 次世代シークエンサー / 錐体桿体ジストロフィー / target exome sequencing / 遺伝性網膜変性疾患 / 遺伝子解析 / 原因遺伝子

Outline of Final Research Achievements

We achieved the genotype screening in a Japanese cohort of inherited retinal diseases using next generation sequencing. The results of screening were analyzed with the result of the clinical examination. The clinical features in retinitis pigmentosa were overlapped in many genes.

Research Products

• [Journal Article] Efficacy of Column Scatter Plots for Presenting Retinitis Pigmentosa Phenotypes in a Japanese Cohort (2016)
  • Author(s): Ogino K, Osihi A, Oishi M, Gotoh N, Morooka S, Sugahara M, Hasegawa T, Miyata M, Yoshimura N
  • Journal Title: translational vision science and techmology Volume: 未定
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Next-genetation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies (2016)
  • Author(s): Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N
  • Journal Title: Molecular Vision Volume: 22 Pages: 150-160
  • Peer Reviewed / Open Access / Acknowledgement Compliant
• [Journal Article] Comprehensive molecular diagnosis of a large cohort of japanese retinitis pigmentosa and usher syndrome patients by next-generation sequencing. (2014)
  • Author(s): Oishi, M., Oishi, A., Gotoh, N., Ogino, K., Higasa, K., Iida, K., Makiyama, Y., Morooka, S., Matsuda, F. & Yoshimura, N.
  • Journal Title: Invest Ophthalmol Vis Sci Volume: 55 Issue: 11 Pages: 7369-7375
  • DOI: 10.1167/iovs.14-15458
  • Peer Reviewed
• [Presentation] 次世代シークエンサーを用いた遺伝性網膜変性疾患の網羅的遺伝子診断 (2014)
  • Author(s): 大石真秀
  • Organizer: 第68回日本臨床眼科学会
  • Place of Presentation: 神戸ポートピアホテル
  • Year and Date: 2014-11-13 – 2014-11-16