• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

Clinical application of genome-medical research

Research Project

Project/Area Number 17019025
Research Category

Grant-in-Aid for Scientific Research on Priority Areas

Allocation TypeSingle-year Grants
Review Section Biological Sciences
Research InstitutionShinshu University

Principal Investigator

FUKUSHIMA Yoshimitsu  Shinshu University, 医学部, 教授 (70273084)

Co-Investigator(Kenkyū-buntansha) SAKURAI Akihiro  信州大学, 医学部, 准教授 (70262706)
WAKUI Keiko  信州大学, 医学部, 助教 (50324249)
TAMAI Mariko  信州大学, 医学部, 准教授 (80283274)
MARUYAMA Eiji  神戸大学, 法学研究科, 教授 (10030636)
KOSUGI Shinji  京都大学, 医学研究科, 教授 (50252432)
NUMABE Hironao  京都大学, 医学研究科, 准教授 (00237801)
Project Period (FY) 2005 – 2009
Project Status Completed (Fiscal Year 2009)
Budget Amount *help
¥49,600,000 (Direct Cost: ¥49,600,000)
Fiscal Year 2009: ¥10,100,000 (Direct Cost: ¥10,100,000)
Fiscal Year 2008: ¥10,100,000 (Direct Cost: ¥10,100,000)
Fiscal Year 2007: ¥10,100,000 (Direct Cost: ¥10,100,000)
Fiscal Year 2006: ¥10,200,000 (Direct Cost: ¥10,200,000)
Fiscal Year 2005: ¥9,100,000 (Direct Cost: ¥9,100,000)
Keywords遺伝学 / ゲノム / 遺伝カウンセリング / 生命倫理 / 社会医学 / 遺伝子診療 / 遺伝学的検査 / ゲノム情報 / ガイドライン / ELSI / ゲノム医学 / 遺伝子診断 / 指針
Research Abstract

The purpose of genome-medical research is development of diagnosis or treatment for various diseases. On the other hand, if the genomic information is inappropriately used, it would be harmful, because it is unchangeable and it embroils the relatives. We analyzed the three subjects in order to prepare for the new genomics era.
1. We proposed the new clinical system for clinical genetics on the basis of experiences in Shinshu University and Kyoto University.
2. We collected guidelines, law, or recommendations concerning with ELSI problems of genetic data or genome research, created database, and published on HP.
3. We proposed the methods for evaluation of clinical utility of genetic testing.

Report

(6 results)
  • 2009 Annual Research Report   Final Research Report ( PDF )
  • 2008 Annual Research Report
  • 2007 Annual Research Report
  • 2006 Annual Research Report
  • 2005 Annual Research Report
  • Research Products

    (44 results)

All 2008 2007 2006 2005 Other

All Journal Article (33 results) (of which Peer Reviewed: 15 results) Book (8 results) Remarks (3 results)

  • [Journal Article] Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p362008

    • Author(s)
      Saito S, Kawamura R, Kosho T, Shimizu T, Aoyama K, Koike K, Wada T, Matumoto N, Kato M, Wakui K, Fukushima Y
    • Journal Title

      Am J Med Genet 16A

      Pages: 2891-2897

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment2008

    • Author(s)
      Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsu moto N. Fukushima Y
    • Journal Title

      Clin Dysmorphol 17

      Pages: 31-34

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The process of whistleblowing in the nursing staff of a Japanese psychiatric hospital2008

    • Author(s)
      Ohinishi K, Hayama Y, Asai A, Kosugi S.
    • Journal Title

      Nursing Ethics 15

      Pages: 631-642

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Clinical ethics consultation : examining how American and Japanese experts analyse an Alzheimer's case2008

    • Author(s)
      Nagao N, Auliso MP, Nukaga Y, Fujita M, Kosugi S, Youngner S, Akabayashi A.
    • Journal Title

      BMC Med Ehics 9(2)

      Pages: 1-8

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Association study between reward dependence temperament and a polymorphiem in the phenylethanolamine N-methyltransferase gene in a Japanese female population2008

    • Author(s)
      Yamano E, Isowa T, Nakano Y, Matsuda F, Hashimoto-Tamaoki T, Ohira H, Kosugi S
    • Journal Title

      Compr Psychiatry 49

      Pages: 503-507

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Identifying pathogenic genetic background of simplex or multiplex retinitis pig mentosa patients : a large scale mutation screening study2008

    • Author(s)
      Jin ZB, Mandai M, Yokota T, Higuchi K, Ohmori K, Ohtsuki F, Takakura S, Itabashi T, Wada Y, Akimoto M, Ooto S, Suzuki T, Hirami Y, Ikeda H, Kawagoe N, Oishi A, Ichiyama S, Takahashi M, Yoshimura N, Kosugi S.
    • Journal Title

      J Med Genet 45

      Pages: 465-72

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Journal Article] 内科医のための遺伝医学基礎知識(2)2008

    • Author(s)
      櫻井晃洋, 福嶋義光
    • Journal Title

      日内会誌 97

      Pages: 3093-3100

    • NAID

      10024933198

    • Related Report
      2008 Annual Research Report
  • [Journal Article] 内科医のための遺伝医学甚礎知識(1)2008

    • Author(s)
      櫻井晃洋, 福嶋義光
    • Journal Title

      日内会誌 97

      Pages: 2832-2837

    • Related Report
      2008 Annual Research Report
  • [Journal Article] 臨床遺伝専門医・認定遺伝カウンセラーとその制度. (特集 : 小児科医のための遺伝学)2008

    • Author(s)
      山内泰子, 福嶋義光
    • Journal Title

      小児内科 40

      Pages: 1283-1288

    • Related Report
      2008 Annual Research Report
  • [Journal Article] A second generation human haplotype map of over 3. 1 million SNPs.2007

    • Author(s)
      The International HapMap Consortium (composed of 72 institutes, including Fukushima Y)
    • Journal Title

      Nature 449

      Pages: 851-861

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] The International HapMap Consortium, Community engagement and informed consent in the International HapMap project.2007

    • Author(s)
      Rotimi C, Leppert M, Fukushima Y, (他, 16名, 10番目)
    • Journal Title

      Community Genet. 10

      Pages: 186-98

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] A second generation human haplotype map of over 3.1 million SNPs.2007

    • Author(s)
      The International HapMap Consortium(composed of 72 institutes, including Fukushima Y)
    • Journal Title

      Nature 449

      Pages: 851-861

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Nation wide survey on predictive genetic testing for late-onset,incurable neurological diseases in Japan2007

    • Author(s)
      Yoshida K, Wada T, Sakurai A, Wakui K, Ikeda S, Fukushima Y
    • Journal Title

      J Hum Genet 52

      Pages: 675-679

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Long-term follow-up of patients with multiple endocrine neoplasia type12007

    • Author(s)
      Sakurai A, Katai M, Yamashita K, Mori J, Fukushima Y, Hashizume K
    • Journal Title

      Endocrine Journal 54

      Pages: 295-302

    • NAID

      10019478820

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes2007

    • Author(s)
      Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y
    • Journal Title

      Am J Med Genet 43A

      Pages: 2598-2603

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The International HapMap Consortium,Community engagement and informed consent in the International HapMap project2007

    • Author(s)
      Rotimi C, Leppert M, Fukushima Y(, 他16名, 10番目)
    • Journal Title

      Community Genet 10

      Pages: 186-198

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A new detection method for ATRX gene mutations using a mismatch-specific endonuclease2006

    • Author(s)
      Wada T, Fukushima Y, Saitoh S
    • Journal Title

      Am J Med Genet 140A

      Pages: 1519-1523

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Neonatal management of trisomy 18 : Clinical details of 24 patients receiving intensive treatment.2006

    • Author(s)
      Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y
    • Journal Title

      Am J Med Genet 140A

      Pages: 937-944

    • Related Report
      2006 Annual Research Report
  • [Journal Article] A haplotype map of the human genome.2005

    • Author(s)
      The International HapMap Consortium (173 persons including Fukushima Y)
    • Journal Title

      Nature 437

      Pages: 1299-1320

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] Guidelines on Genetic Testing.2005

    • Author(s)
      Fukushima Y
    • Journal Title

      JMAJ (Japan Medical Association Journal) 48

      Pages: 429-431

    • Related Report
      2009 Final Research Report
    • Peer Reviewed
  • [Journal Article] A haplotype map of the human genome.2005

    • Author(s)
      The International HapMap Consortium(173 persons including Fukushima Y)
    • Journal Title

      Nature 437

      Pages: 1299-1320

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Guidelines on Genetic Testing.2005

    • Author(s)
      Fukushima Y
    • Journal Title

      JMAJ(Japan Medical Association Journal) 48

      Pages: 429-431

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Current status of clinical care for familial endocrine tumor syndromes in Japan.2005

    • Author(s)
      Sakurai A, Uchino S, Takami H
    • Journal Title

      Endocr.J 51

      Pages: 757-762

    • NAID

      10016916556

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls.2005

    • Author(s)
      Kosho T, Takahashi J, Ohashi H, Nishimura G, Kato H, Fukushima Y
    • Journal Title

      Am J Med Genet 138A

      Pages: 282-287

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X) : X-inactivation study of nine female carriers of ATR-X.2005

    • Author(s)
      Wada T, Sugie H, Fukushima Y, Saitoh S
    • Journal Title

      Am J Med Genet 138A

      Pages: 18-20

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Multiple endocrine neoplasia type 1 gene mutations in sporadic gastrinomas in Japan2005

    • Author(s)
      Kawamura J, Shimada Y, Komoto I, Okamoto H, Itami A, Doi R, Fujimoto K, Kosugi S, Imamura M
    • Journal Title

      Oncol Rep 14(1)

      Pages: 47-52

    • Related Report
      2005 Annual Research Report
  • [Journal Article] Multiple endocrine neoplasia type 1 presenting as psychosis.2005

    • Author(s)
      Kito S, Nakajima T, Yamadera H, Koga Y, Kosugi S, Hai N.
    • Journal Title

      Am J Psychiatry. 162(4)

      Pages: 810-811

    • Related Report
      2005 Annual Research Report
  • [Journal Article] 遺伝子解析に関する指針・ガイドライン(日本臨床増刊号:遺伝子診療学-遺伝子診断の進歩と遺伝子治療の展望-).2005

    • Author(s)
      福嶋義光
    • Journal Title

      日本臨床 63(増刊号12)

      Pages: 9-15

    • Related Report
      2005 Annual Research Report
  • [Journal Article] 多因子遺伝病研究と診療の倫理問題.2005

    • Author(s)
      福嶋義光
    • Journal Title

      最新医学 60

      Pages: 2200-2207

    • Related Report
      2005 Annual Research Report
  • [Journal Article] 遺伝子診療(遺伝子医療)体制の整備 現状と課題(連載10「遺伝子診断の最前線」)2005

    • Author(s)
      福嶋義光, 櫻井晃洋
    • Journal Title

      医学の歩み 213

      Pages: 1135-1139

    • Related Report
      2005 Annual Research Report
  • [Journal Article] 医学教育における遺伝カウンセリング・ロールプレイ実習.2005

    • Author(s)
      櫻井晃洋, 古庄知己, 和田敬仁, 涌井敬子, 川目裕, 玉井眞理子, 福嶋義光
    • Journal Title

      家族性腫瘍 5

      Pages: 51-56

    • NAID

      130007539463

    • Related Report
      2005 Annual Research Report
  • [Journal Article] ありふれた疾患(Common Disease)の遺伝子診断の臨床的有用性の評価2005

    • Author(s)
      小杉眞司
    • Journal Title

      医学のあゆみ 213

      Pages: 291-296

    • Related Report
      2005 Annual Research Report
  • [Journal Article] 遺伝子検査に関するウェブサイト2005

    • Author(s)
      沼部博直, 小杉眞司
    • Journal Title

      小児内科 37

      Pages: 1405-1411

    • Related Report
      2005 Annual Research Report
  • [Book] 遺伝カンセリング. メディカルノート検査の基本2008

    • Author(s)
      福嶋義光
    • Publisher
      西村霧店
    • Related Report
      2008 Annual Research Report
  • [Book] 先天異常(単一遺伝子病, 多因子遺伝病, 先天奇形). 小児疾患(よくわかる病態整理15)2008

    • Author(s)
      和田敬仁, 福嶋義光
    • Publisher
      日本医事新報社
    • Related Report
      2008 Annual Research Report
  • [Book] 遺伝医療と倫理・法・社会2007

    • Author(s)
      福嶋義光, 玉井真理子(編)
    • Publisher
      メディカルドゥ
    • Related Report
      2009 Final Research Report 2007 Annual Research Report
  • [Book] 遺伝子診断のガイドライン.小児科の新しい流れ(先端医療シリーズ34).(柳澤正義,衛藤義勝,五十嵐隆 編集主幹)2006

    • Author(s)
      福嶋義光
    • Publisher
      先端医療技術研究所
    • Related Report
      2006 Annual Research Report
  • [Book] 生命倫理. バイオインフォマティクス事典(日本バイオインフォマティクス学会編集)2006

    • Author(s)
      福嶋義光
    • Publisher
      共立出版
    • Related Report
      2006 Annual Research Report
  • [Book] 遺伝子診断を行なう際の注意点.きこえと遺伝子 -難聴の遺伝子診断と遺伝カウンセリング(宇佐美真一 編)2006

    • Author(s)
      福嶋義光
    • Publisher
      金原出版
    • Related Report
      2006 Annual Research Report
  • [Book] 難聴の遺伝カウンセリング.きこえと遺伝子-難聴の遺伝子診断と遺伝カウンセリング(宇佐美真一 編)2006

    • Author(s)
      福嶋義光, 宇佐美真一
    • Publisher
      金原出版
    • Related Report
      2006 Annual Research Report
  • [Book] Ethical problems and genetic counseling for gene tests. In : Clinical Applications of Molecular Diagnosis : Translational Research.(ed Hiyama K, Hiyama E)

    • Author(s)
      Kosugi S
    • Publisher
      Research Signpost, Kerala(In press)
    • Related Report
      2005 Annual Research Report
  • [Remarks] 「ゲノム医学研究成果の医療への応用に関する研究」班HP

    • URL

      http://gc.pbh.med.kyoto-u.ac.jp/g4c05/

    • Related Report
      2009 Final Research Report
  • [Remarks]

    • URL

      http://gc.pbh.med.kyoto-u.ac.jp/g4c05/

    • Related Report
      2009 Annual Research Report
  • [Remarks] 「ゲノム医学研究成果の医療への応用に関する研究」班HP

    • URL

      http://gc.pbh.med.kyoto-u.ac.jp/g4c05/

    • Related Report
      2008 Annual Research Report

URL: 

Published: 2005-04-01   Modified: 2018-03-28  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi