Development of a newborn ultra-rapid genome screening system beyond newborn mass screening
| Project/Area Number |
18K07863
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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 | National Center for Child Health and Development |
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Principal Investigator |
Kaname Tadashi 国立研究開発法人国立成育医療研究センター, ゲノム医療研究部, 部長 (40264288)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2020)
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| Budget Amount *help |
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2019: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2018: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 新生児スクリーニング / 網羅的遺伝子解析 / 遺伝子パネル解析 / FPGA / NGS / 病的バリアント / パネル解析 / 心伝導障害 / 先天代謝異常 / 新生児ゲノムスクリーニング / 次世代シーケンサ / 解析迅速化 / 新生児マス・スクリーニング / 迅速診断 |
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| Outline of Final Research Achievements |
This study is based on genome analysis for genetic diseases that are important to be detected in the neonatal period, such as inborn errors of metabolism and long QT syndrome, which cannot be diagnosed by newborn mass screening based on tandem mass analysis. The purpose was to construct a system that can be covered the diseases widely and can be detected by screening in a shorter time than immediately after birth.
Rapid DNA purification from blood, 1172 genes panel (inborn errors of metabolism, heart disease/conduction disorder, immune diseases, etc.), the human genome reference mapping/variants calling/annotation using FPGA were combined and constructed the system. Using the system, pathogenic variants of the SCL25A20 gene, the KCNH2 and other genes were practically confirmed.
Although this screening system is costly, it was possible to detect variants within 72 hours.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究は、現在行われている新生児マス・スクリーニングでカバーできない疾患、期間を解消するための、試行的研究である。
本研究では、次世代ゲノム解析を中心として、１）現在のマス・スクリーニングがカバーしていないが小児期診断が重要な疾患も対象とできること、２）症状等が現れる前の早期の段階で見出すことができること、を目指したスクリーニングシステムを構築した。研究成果は、コスト面の問題が残るものの、新生児期に治療等で防げる重要な疾患を見出すことが可能で、本システムを発展させることにより、当該疾患の頻度や傾向に関する研究および小児医療に貢献できると思われる。
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Report
(4 results)
Research Products
(69 results)
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[Journal Article] HECW2-related disorder in four Japanese patients2021
Author(s)
Yanagishita T, Hirade T, Yamamoto-Shimojima K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T
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Journal Title
Am J Med Genet A
Volume: -
Related Report
Peer Reviewed
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[Journal Article] Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome2020
Author(s)
Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Kuroki Y, Kurosawa K. et al.
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Journal Title
American Journal of Medical Genetics Part A
Volume: 182
Issue: 10
Pages: 2333-2344
DOI
Related Report
Peer Reviewed
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