2023 Fiscal Year Final Research Report
Implementation of 3-D Facial Image-based Diagnosis Assistance of Ultrarare Congenital Malformation Syndromes
| Project/Area Number |
21K07800
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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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| Review Section |
Basic Section 52050:Embryonic medicine and pediatrics-related
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| Research Institution | Nagasaki University |
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Principal Investigator |
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| Project Period (FY) |
2021-04-01 – 2024-03-31
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| Keywords | 顔貌解析 / ３次元モデリング / バイオインフォマティクス / ダウン症候群 / 単一遺伝子病 / 染色体起因疾患 |
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| Outline of Final Research Achievements |
To date, three-dimensional facial imaging has been performed on 43 cases at 59 different time points. For some cases, longitudinal changes could be tracked with an interval of approximately six months or more. The breakdown of cases includes 38 cases of Down syndrome and five cases of other monogenic or chromosomal disorders. In addition, as a control group, three-dimensional facial imaging was performed on seven individuals at 10 different time points. These data were used to set measurement points and obtain anthropometric facial measurements using the Cliniface software. The data from this Japanese cohort significantly diverged from the reference values obtained from Caucasian cohorts, indicating the necessity of establishing reference values specifically for the Japanese population.
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| Free Research Field |
人類遺伝学
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| Academic Significance and Societal Importance of the Research Achievements |
臨床診断が難しい先天形態異常症候群の確定診断には、とくに大きな手がかりとなる顔貌特徴とが重要である。研究代表者は、２次元顔貌解析技術 Face2Gene が本邦症例でもすでに高い性能を持つが、極めてまれな症候群の診断補助には能力不足であることを報告した。本研究の目的は、情報密度の高い３次元顔貌情報の導入による、学習症例数が限られた極めてまれな先天形態異常症候群における診断補助の実現である。
この研究の成果は、今後さらに規模を拡大した国内の３次元顔貌情報の収集と共有、あるいは国際的な情報共有による超希少疾患の診断能力の向上へむけた先駆けとなるものである。
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