Construction of a comprehensive regional medical system and development of diagnostic method for rare and undiagnosed eye disease patients in Japan
| Project/Area Number |
17K11447
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Hamamatsu University School of Medicine |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
東 範行 国立研究開発法人国立成育医療研究センター, 感覚器・形態外科部, 診療部長 (10159395)
近藤 寛之 産業医科大学, 医学部, 教授 (40268991)
細野 克博 浜松医科大学, 医学部, 助教 (60402260)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 希少眼疾患 / 変異解析 / 次世代シークエンサー / ターゲットシークエンス解析 / 未診断眼疾患患者 / 遺伝子診断 / 未診断眼疾患 / 遺伝子解析 |
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| Outline of Final Research Achievements |
It is difficult to make an accurately diagnosis by only the image diagnosis methods for rare and undiagnosed eye disease patients, who have clinical ocular findings and could not be diagnosed by ordinary medical care. Therefore, we collected the rare and undiagnosed eye disease patients in Japan using the comprehensive regional medical system constructed in this study, and performed mutation analysis using next generation sequencer for the patients.
The results of the analysis revealed the phenotype-genotype correlations of male patients and female carriers in 12 families with X-linked retinitis pigmentosa. In additions, we performed the genomic analysis of five incontinentia pigmenti patients and revealed the recurrent exon 4-10 deletion in the known causative gene IKBKG.
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| Academic Significance and Societal Importance of the Research Achievements |
臨床的な眼所見を有しながら通常の医療の中で診断に至る事が困難な未診断眼疾患患者は、複数の医療機関を受診しても原因がわからず治療法も見つからないまま長期に渡って様々な症状に悩まされている。これら患者は、通常の眼科検査を適切に行うことによって診断可能な場合もあるが、症例数が少なく診断が困難な希少眼疾患患者のこともある。本研究はわが国の希少・未診断眼疾患患者に対して地域網羅的な診療体制を構築して患者収集を行い、網羅的な遺伝子変異解析による遺伝子検査を行うものである。本研究により診断が確定された症例の臨床情報と遺伝学的情報は論文や学会報告を行い情報共有し、各医療機関間で将来の診断の為に活用されている。
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Report
(4 results)
Research Products
(60 results)
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[Journal Article] Phenotypic features of Oguchi disease and retinitis pigmentosa in patients with SAG mutations. A long-term follow-up study2019
Author(s)
Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda K-H, Murakami A, Nakazawa M, Nakazawa T, Abe T.
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Journal Title
Ophthalmology
Volume: 126
Issue: 11
Pages: 1557-1565
DOI
Related Report
Peer Reviewed
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[Journal Article] Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.2019
Author(s)
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH.
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Journal Title
Jounal of Medical Genetics
Volume: 56
Issue: 10
Pages: 662-670
DOI
Related Report
Peer Reviewed
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[Journal Article] Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.2018
Author(s)
Katagiri S, Iwasa M, Hayashi T, Hosono K, Yamashita T, Kuniyoshi K, Ueno S, Kondo M, Ueyama H, Ogita H, Shichida Y, Inagaki H, Kurahashi H, Kondo H, Ohji M, Hotta Y, Nakano T.
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Journal Title
Sci Rep
Volume: 8
Issue: 1
Pages: 11507-11507
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Presentation] Targeted resequencing of 83 causative genes in 1,204 Japanese patients with retinitis pigmentosa2019
Author(s)
Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda K
Organizer
The 19th EURETINA Congress
Related Report
Int'l Joint Research
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[Presentation] Mutation Analysis of Japanese Patients with Leber Congenital Amaurosis by Next Generation Sequencing2018
Author(s)
Hosono K, Nishina S, Yokoi T, Katagiri S, Kurata K, Miyamichi D, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y
Organizer
ARVO2018
Related Report
Int'l Joint Research
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[Presentation] Molecular Analysis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing2018
Author(s)
Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y
Organizer
日本人類遺伝学会第63回大会
Related Report
Int'l Joint Research
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[Presentation] Resequencing of 83 causative genes in 1,204 Japanese patients with retinitis pigmentosa2018
Author(s)
Koyanagi Y, Akiyama M, Nishiguchi K, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda K
Organizer
The 11th Joint Meeting of Japan-China-Korea Ophthalmologists
Related Report
Int'l Joint Research
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