Study for establishment of genome medical research supporting system

• Project/Area Number: 17019003
• Research Category: Grant-in-Aid for Scientific Research on Priority Areas
• Allocation Type: Single-year Grants
• Review Section: Biological Sciences
• Research Institution: Chiba University
• Principal Investigator: HATA Akira Chiba University, 大学院・医学研究院, 教授 (00244541)
• Co-Investigator(Kenkyū-buntansha): KUBOTA Motoo 千葉大学, 医学部附属病院, 助手 (10225211) ; ISHII Takuma 千葉大学, 大学院・医学研究院, 助手 (70312452)
• Project Period (FY): 2005 – 2009
• Project Status: Completed (Fiscal Year 2009)
• Budget Amount: ¥33,300,000 (Direct Cost: ¥33,300,000); Fiscal Year 2009: ¥6,700,000 (Direct Cost: ¥6,700,000); Fiscal Year 2008: ¥6,700,000 (Direct Cost: ¥6,700,000); Fiscal Year 2007: ¥6,700,000 (Direct Cost: ¥6,700,000); Fiscal Year 2006: ¥6,800,000 (Direct Cost: ¥6,800,000); Fiscal Year 2005: ¥6,400,000 (Direct Cost: ¥6,400,000)
• Keywords: ゲノム / 研究支援 / インフォームド・コンセント / ゲノム医学研究支援 / 人材養成 / ウェッブアンケート / ヒト試料 / 履行補助者 / 倫理指針 / 脳動脈瘤 / 高精度ゲノムアレイ

Research Abstract

The aim of this study is to find out what kind of supporting system to recruit samples for genome medical research is most effective, convenient, and ethical in Japan. For common diseases, support personnel for informed consent procedures are reveled to be the most demanding. We decided to establish genome research coordinator accreditation system. Now we have the system based on the Japanese Human Genetic Society, and a significant number of coordinators have been certified. For rare diseases, nation-wide network of certified medical geneticists was constructed.

Research Products

• [Journal Article] International web-based survey of informed consent procedures in genetic epidemiological studies: towards the establishment of a research coordinator accrefitation system. (2009)
  • Author(s): Yamamoto M, Funamizu M, Muto K, Hata A.
  • Journal Title: J Hum Genet. 54 Pages: 713-720
• [Journal Article] CD14 and IL4R gene polymorphisms modify the effect of day care attendance on serum IgE levels. (2009)
  • Author(s): Suzuki Y, Hattori S, Mashimo Y, Funamizu M, Kohno Y, Okamoto Y, Hata A, Shimojo N.
  • Journal Title: J Allergy Clin Immunol. 123 Pages: 1408-1411
• [Journal Article] International web-based survey of informed consent procedures in genetic epidemiological studies : towards the establishment of a research coordinator accreditation system (2009)
  • Author(s): Yamamoto M, et al.
  • Journal Title: J Hum Genet 54 Pages: 713-720
  • Peer Reviewed
• [Journal Article] CD14 and IL4R gene polymorphisms modify the effect of day care attendance on serum IgE levels (2009)
  • Author(s): Suzuki Y, et al.
  • Journal Title: J Allergy Clin Immunol 123 Pages: 1408-1411
  • Peer Reviewed
• [Journal Article] Association analysis of genes involved in the maintenance of the integrity of the extracellular matrix with intracranial aneurysms in a Japanese cohort (2009)
  • Author(s): Ruigrok YM, et al.
  • Journal Title: Cerebrovasc Dis. 28 Pages: 131-134
  • Peer Reviewed
• [Journal Article] Susceptibility loci for intracranial aneurysm in European and Japanese populations. (2008)
  • Author(s): Bilguvar K, Yasuno K, Niemela M,Ruigrok YM, von Und Zu Fraunberg M, vanDuijn CM, van den Berg LH, Mane S,Mason CE, Choi M, Gaal E, Bayri Y, KolbL, Arlier Z, Ravuri S, Ronkainen A,Tajima A, Laakso A, Hata A, Kasuya H,Koivisto T, Rinne J, Ohman J, BretelerMM, Wijmenga C, State MW, Rinkel GJ,Hernesniemi J, Jaaskelainen JE,Palotie A, Inoue I, Lifton RP, GunelM.
  • Journal Title: Nature Genet 40 Pages: 1472-1477
• [Journal Article] Heterozygous Deletion at 14q22. 1-q22. 3 including the BMP4 gene in a Patient with Psychomotor Retardation, Congenital Corneal Opacity and Feet Polysyndactyly. (2008)
  • Author(s): Hayashi S, Okamoto N, Yoshio Makita Y, Hata A, Imoto I, Inazawa J.
  • Journal Title: Am J Med Genet. 146A Pages: 2905-2910
• [Journal Article] The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation. (2008)
  • Author(s): Hayashi S, Mizuno S, Migita O, Okuyama T, Makita Y, Hata A, Imoto I, Inazawa J.
  • Journal Title: Am J Med Genet. 146A Pages: 2145-2151
• [Journal Article] A functional polymorphism in ITPKC is associated with Kawasaki disease suscep tibility and formation of coronary artery aneurysms (2008)
  • Author(s): Onouchi Y, et.al.
  • Journal Title: Nature Genetics 40 Pages: 35-42
  • Peer Reviewed
• [Journal Article] TNFRSF4 gene polymorphisms with essential hypertension (2008)
  • Author(s): Mashimo Y, et.al.
  • Journal Title: J Hypertens 26 Pages: 902-913
  • Peer Reviewed
• [Journal Article] The CASK gene harbored in a deletion detected by array-CGH as a pot ential candidate for a gene causative of X-linked dominant mental retar dation (2008)
  • Author(s): Hayashi S, et.al.
  • Journal Title: Am J Med Genet 146A Pages: 2145-2151
  • Peer Reviewed
• [Journal Article] A functional polymorphism in ITPKC is associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms. (2008)
  • Author(s): Onouchi, et. al.
  • Journal Title: Nature Genet 40 Pages: 35-42
  • Peer Reviewed
• [Journal Article] Systemic multiple candidate gene approach for identification of susceptible genes and susceptible pathways for hypertension. (2008)
  • Author(s): Kohara K, et. al.
  • Journal Title: Hypertens Res (In press)
  • Peer Reviewed
• [Journal Article] Association of TNFRSF4 gene polymorphisms with essential hypertension (2008)
  • Author(s): Mashimo, et. al.
  • Journal Title: J Hypertens (In press)
  • Peer Reviewed
• [Journal Article] An intronic variable number of tandem repeat polymorphisms of the cold-induced autoinflammatory syndrome 1 (CIAS1) gene modifies gene expression and is associated with essential hypertension. (2006)
  • Author(s): Omi T et al.
  • Journal Title: European Journal of Human Genetics 14 Pages: 1295-1305
• [Journal Article] Mutation of the follicle-stimulating hormone receptor gene 5'-untranslated region associated with female hypertension. (2006)
  • Author(s): Nakayama T et al.
  • Journal Title: Hypertension 48 Pages: 512-518
• [Journal Article] A haplotype spanning two genes, ELN and LIMK1, decreases their transcripts and confers susceptibility to intracranial aneurysms. (2006)
  • Author(s): Akagawa H et al.
  • Journal Title: Human Molecular Genetics 15 Pages: 1722-1734
• [Presentation] GMRC制度の未来へ向けて-スキルと制度設計 (2009)
  • Author(s): 羽田明, 山本緑, 小林いずみ
  • Organizer: 第54回日本人類遺伝学会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-26
• [Presentation] 海外ゲノム疫学研究におけるインフォームドコンセントの実態調査 (2008)
  • Author(s): 山本緑, 船水真紀子, 羽田明
  • Organizer: 第53回日本人類遺伝学会
  • Place of Presentation: 横浜
• [Presentation] インフォームド・コンセント履行補助者の有用性に関する検討 (2007)
  • Author(s): 船水真紀子, ら
  • Organizer: 第14回遺伝子診療学会
  • Place of Presentation: 松山(愛媛県)
• [Book] アレイCGH診断活用ガイドブック-知っておきたい染色体微細構造異常症-稲澤譲治(羽田明編) (2008)
  • Author(s): 蒔田芳男
  • Total Pages: 239
  • Publisher: 医薬ジャーナル社
• [Book] アレイCGH診断活用ガイドブック (2008)
  • Author(s): 稲澤譲治, 蒔田芳男, 羽田明
  • Total Pages: 239
  • Publisher: 医薬ジャーナル社
• [Book] アレイCGH診断活用ガイドブック (2007)
  • Author(s): 稲澤譲治, 蒔田芳男, 羽田 明編
  • Total Pages: 239
  • Publisher: 医薬ジャーナル社
• [Remarks]
  • URL: http://www.genome-sci.jp/kumomaku/
• [Remarks]
  • URL: http://jshg.jp/qualifications/gmrc.html