抄録集はこちら - 国立国際医療研究センター

第４回
織田記念国際シンポジウム
The 4th International Oda Memorial Symposium
抄録集
Proceedings
国立研究開発法人
国立国際医療研究センター
National Center for Global Health and Medicine
第４回織田記念国際シンポジウム
2015年 11月 20日（金）13:00～17:3５
会場国立国際医療研究センター研修センター棟5階大会議室
日
時
ゲノム医療実現に向けた
国際動向と我が国の取り組み
≪総合司会≫
加藤規弘（国立国際医療研究センター研究所遺伝子診断治療開発研究部長）
開会挨拶
13：00～
春日雅人（国立国際医療研究センター理事長）
基調講演
13：10～13：25
座長：清水孝雄（国立国際医療研究センター研究所）
「AMED:Mission and Perspectives 」
末松誠（国立研究開発法人日本医療研究開発機構理事長）
第一部
13：25～14：55
「ゲノム医療実現に向けた国際動向」
座長：福嶋義光（信州大学医学部）
後藤雄一（国立精神神経医療研究センター研究所）
Genomic Medicine Programs of the National Human Genome Research Institute
Teri Manolio（Director, Division of Genomic Medicine, NHGRI, NIH, U.S.A.）
The 100,000 Genomes Project – time for healthcare translation
Mark Caulﬁeld（Chief Scientist of Genomics England;
Director of the William Harvey Research Institute, UK）
Implementation of genomic medicine from the perspective of a United States healthcare system
Marc Williams（Director, Genomic Medicine Institute, Geisinger Health System, U.S.A.）
第二部
15：00～16：30
「ゲノム医療実現に向けた我が国の取組」
座長：寒川賢治（国立循環器病研究センター研究所）
柳澤勝彦（国立長寿医療研究センター研究所）
Impact of rare disease research on medicine
松原洋一（国立成育医療研究センター研究所研究所長）
Personal genome analyses: Elucidation of molecular bases of diseases andclinical implementation
辻省次（東京大学医学部神経内科教授）
Clinical sequencing for precision cancer medicine in National Cancer Center, Japan
河野隆志（国立がん研究センター研究所ゲノム生物学研究分野分野長）
Host genome analysis and its clinical application to liver diseases
溝上雅史（国立国際医療研究センター肝炎・免疫研究センター長）
Toward systems medicine
洪
実（慶應義塾大学医学部坂口記念システム医学教室教授）
From bench to bedside: Diagnosis and treatment of the intractable diseases
斎藤加代子（東京女子医科大学遺伝子医療センター所長）
第三部
16：30～17：30
総合討論「ゲノム医療の実現に向けて」
座長：中釜斉（国立がん研究センター研究所）
加藤規弘（国立国際医療研究センター研究所）
閉会挨拶 17：3５
主催
入場
無料
中村利孝（国立国際医療研究センター病院長）
国立研究開発法人国立国際医療研究センター
〒162-8655 東京都新宿区戸山1-21-1
TEL:03-3202-7181(代表)
FAX:03-3207-1038
http://www.ncgm.go.jp/
Program
Date: Friday 20th November, 2015
Venue: Conference Hall, National Cenber for Global Health and Medicine
Opening Address
13:00–13:10
Masato Kasuga
Key Note Speech
Chairperson: Takao Shimizu
13:10–13:25
Makoto Suematsu
Japan Agency for Medical Research and Development (AMED): Mission and Perspectives
Session I. International Trends in Development of Genomic Medicine
Chairpersons: Yoshimitsu Fukushima and Yuichi Goto
13:25–13:55
13:55–14:25
14:25–14:55
Teri Manolio
Genomic Medicine Programs of the National Human Genome Research Institute
Mark Caulfield
The 100,000 Genomes Project – time for healthcare translation
Marc S. Williams
Implementation of genomic medicine from the perspective of a United States healthcare system
14:55–15:05
Break
Session II. Japan’s Efforts on Development of Genomic Medicine
Chairpersons: Kenji Kangawa and Katsuhiko Yanagisawa
15:05–15:20
15:20–15:35
15:35–15:50
15:50–16:05
16:05–16:20
16:20–16:35
Yoichi Matsubara
Impact of rare disease research on medicine
Shoji Tsuji
Personal genome analyses: Elucidation of molecular bases of diseases and clinical implementation
Takashi Kohno
Clinical sequencing for precision cancer medicine in National Cancer Center, Japan
Masashi Mizokami
Host genome analysis and its clinical application to liver diseases
Minoru S.H. Ko
Toward systems medicine
Kayoko Saito
From bench to bedside: the diagnosis and treatment of intractable diseases
Session III. Panel Discussion: Towards Realization of Genomic Medicine
Chairpersons: Hitoshi Nakagama and Norihiro Kato
16:35–17:30
Discussion and Conclusions
Closing Remark
17:30–17:35
Toshitaka Nakamura
第４回織田記念国際シンポジウム開催にあたって
国立国際医療研究センター理事長　春日　雅人
ゲノム医療とは、
「ゲノム情報を網羅的に調べて、その結果をもとに、
より効率的・効果的に病気の診断・治療などを行う」ことを意味します。
1990年から2003年までのヒトゲノム計画を基盤として、ゲノム研究は
目覚ましいスピードで進展しています。次世代シークエンサーの開発・
改良がその駆動力となっていることは言うまでもありませんが、ゲノ
ム医療としての運用がすでに始まっているのは、難病などの希少遺伝
性疾患の遺伝子診断、及びがんの分子標的薬に対するコンパニオン診
断薬の開発、などです。ゲノム医療は、臨床的インパクトのみならず、
ゲノム研究における学術的・経済的インパクトも大きな分野であり、
産出されるビッグデータの処理は新たな産業分野として注目されてい
ます。
先進諸国を中心に、社会の高齢化が進むなかで、予防医療の重要性
が高まりゲノム医療実用化の動きが加速しつつあります。我が国でも、
ナショナルセンター、大学、関連学会等で、来るべきゲノム医療の準
備に着手し始めていますが、国内外のゲノム研究開発やゲノム医療の
進捗状況に鑑みると、多様な課題に対して戦略的、かつスピード感を
もって取り組むことが必要と思われます。本国際シンポジウムでは、
アメリカとイギリスの国家的取り組みをキーパーソンにご紹介いただ
き、我が国の第一人者にご発表、ご討論いただくことで、ゲノム医療
のロードマップ整備・国際連携の一助になればと期待しています。
Welcome Letter
Masato Kasuga
President, National Center for Global Health and Medicine
Genomic medicine can be defined to provide efficient and effective diagnostics and therapeutics by using each
person's genomic information. On the basis of achievements in the Human Genome Project conducted between
1990 and 2003, a research on genomic medicine has made and is making a rapid and remarkable progress,
which is principally driven by the development and improvement of next generation sequencing technologies. A
few examples for genomic medicine, such as genetic diagnosis of rare disease and companion diagnostic test of
molecular targeted drug acting on cancer cells, have already been implemented in the clinical setting. Genomic
medicine exerts not only clinical but also academic and economical impacts on a biomedical research and has drawn
substantial attention in the point that the processing of big data produced in genomic medicine is an industrial field
of innovation.
As population aging is becoming a social problem in most of the developed countries, the importance of preventive
and proactive medicine is emphasized and clinical implementation of genomic medicine will be more accelerated.
In Japan, a number of related organizations, including National Research Centers for Advanced and Specialized
Medical Care (National Centers), universities and academic societies, have started to prepare practical applications
and implementation of genomic medicine. However, considering the current global situations surrounding genomic
medicine and its research, it is necessary that we deal with a variety of themes in genomic medicine strategically
and with a sense of urgency.
In this symposium, we invite authorities who play a key role in the national genomic medicine project in U.S.A. and
UK and ask them to introduce it; we also ask leading investigators in Japan to present their activities. We then
expect that discussion in this symposium contributes to the development of a global roadmap for genomic medicine
as well as to international cooperation.
― 1 ―
■ 基調講演 AMED: Mission and Perspectives
■ 演　者末松　誠／ Makoto Suematsu, M.D., Ph.D.
■ 所　属国立研究開発法人　日本医療研究開発機構　理事長
President, Japan Agency for Medical Research and Development (AMED)
日本医療研究開発機構は、医療〈Synopsis〉
分野の研究開発における基礎から
Japan Agency for Medical Research and Development
実用化までの一貫した研究開発の
(AMED) aims to fast-track medical R&D and to support
推進と環境の整備を総合的かつ効
a wide spectrum of medical sciences including basic,
果的に行うため、医療分野の研究
translational and clinical researches in Japan. To this
開発及びその環境の整備の実施、 end, AMED is challenging to eliminate any obstacles
助成等の業務を行うことを目的と
for medical R&D, including Balkanism of institutions for
する。文部科学省、厚生労働省、 medical research and funding systems. I will summarize
経済産業省の医学・医療の研究費を一括管理し、創薬や
activities and perspectives of the new Agency to
医療機器の実用化プロセスの加速・推進をミッションと
empower our medicine as a science of uncertainty and
して担うことになる。講演では新機構のミッションと展
an art of probability.
望について論じたい。
〈Short CV〉
March 1983: Graduated from Keio University School of
〈略歴〉
Medicine
1984-1988 : Post-graduate School, Keio University School
昭和 58 年 3 月 : 慶應義塾大学医学部卒業
昭和 63 年 4 月 : 慶應義塾大学　助手（医学部内科学教室） of Medicine (Internal Medicine, Gastroenterology)
平成 3 年 5 月 : カリフォルニア大学サンディエゴ校応用生
May 1991: Research Bioengineer, Institute for
体医工学部 Research Bioengnineer (Professor Benjamin
Biomedical Engineering, University of California San
W. Zweifach) として留学
Diego
平成 13 年 4 月 : 慶應義塾大学　教授（医学部医化学教室） April 2001: Professor and Chair, Department of
平成 19 年 10 月 : 慶應義塾大学医学部長（～平成 27 年 3
Biochemistry, Keio University School of Medicine
月 31 日）
October 2007-March 2015: Dean, Keio University School
平成 21 年 10 月 : 科学技術振興機構戦略的創造研究推進
of Medicine
事業（ERATO）
October 2009-: Leader, JST, ERATO, Suematsu Gas
Biology Project
「末松ガスバイオロジープロジェクト」研究統括
平成 27 年 4 月 : 国立研究開発法人日本医療研究開発機
April 2015~present : President, Japan Agency for
構理事長
Medical Research and Development
― 2 ―
■ タイトル Genomic Medicine Programs of the National Human
Genome Research Institute
■ 演　者 Teri Manolio, M.D., Ph.D.
■ 所　属 Director, Division of Genomic Medicine, National Human Genome Research Institute, U.S.A.
〈Synopsis〉
The National Human Genome Research Institute (NHGRI), in close collaboration
with its research community, is pursuing an ambitious research and
dissemination effort to facilitate and promote the implementation of genomics in
clinical care. Major projects involve undiagnosed diseases, newborn sequencing,
clinical sequencing exploratory research, biorepositories with electronic medical
records, diverse clinical settings and populations, and clinical annotation of genes
and variants to optimize the use of genomic variation in medical care. These
efforts provide a valuable complement to the highly successful basic genomics research enterprise
that has at last enabled the transition of genomics from the bench to the bedside.
〈Short CV〉
Dr. Manolio directs the Division of Genomic Medicine of the National Human Genome Research Institute,
where she leads programs to develop and implement genomic applications in clinical care. She continues
to practice and teach internal medicine at the Walter Reed National Military Medical Center, and is a
professor of medicine at the Uniformed Services University of the Health Sciences. She is the author of
over 260 original research papers and has research interests in genome-wide association studies of complex
diseases, ethnic differences in disease risk, integrating genomic research into electronic medical records,
and incorporating genomic findings into clinical care.
― 3 ―
■ タイトル The 100,000 Genomes Project – time for
healthcare translation
■ 演　者 Mark Caulfield, FMedSci
■ 所　属 Chief Scientist of Genomics England; Co-Director of the
William Harvey Research Institute, UK
〈Synopsis〉
The key principle of the 100,000 genomes project is to undertake whole genome
sequencing from patients with cancer, rare disorders, and infectious disease, and
link these data to a standardised, extensible clinical information including treatment
history, and patient outcomes. This will produce new capability and capacity and
hopefully a lasting legacy for genomic medicine within the NHS and we are learning
from current pilots in rare disease and cancer. To identify and enrol participants,
we have created the concept of NHS Genomics Medicine Centres and 11 have been
commissioned to harness the capability and capacity of the NHS across England to contribute to the
100,000 Genomes Project between 2015 and 2017. Alongside we will create the Genomics England Clinical
Interpretation Partnership to bring funders, researchers, NHS teams, trainees and potentially industrial
partners together to enhance the value of this dataset for healthcare benefit.
〈Short CV〉
Mark Caulfield graduated in Medicine in 1984 from the London Hospital Medical College and trained
in Clinical Pharmacology at St Bartholomew’s Hospital where he developed a research programme in
molecular genetics of hypertension and translational clinical research. In 2007, 2009 and 2011 his research
has been independently rated amongst the top ten scientific discoveries in his field. In 2009 he won the
Lily Prize of the British Pharmacology Society. Since 2008 he directs the Barts National Institute of Health
Research Cardiovascular Biomedical Research Unit. He was appointed Director of William Harvey Research
Institute in 2002 and was elected to the Academy of Medical Sciences in 2008 and was President of the
British Hypertension Society (2009-2011). He is an NHS consultant in the Barts Blood Pressure Clinic
within the Barts/William Harvey European Society of Hypertension Centre of Excellence. He raised £25m
toward the William Harvey Heart Centre which created a translational clinical research centre and was
the academic leader that created the Barts Heart Centre bringing 3 hospitals together at Barts in 2015
to create the UK’s largest heart centre (includes UCLH Heart Hospital, the London Chest Hospital and
Barts) http://www.bartshealth.nhs.uk/ bartsheartcentre. He served on the 2011 NICE Guideline Group for
hypertension and leads the Joint UK Societies’Working Group and Consensus on Renal Denervation. In
2013 he was appointed Chief Scientist for Genomics England, charged with delivery of the 100,000 Genomes
Project on whole genome sequencing in rare disease, cancer and infection www.genomicsengland.co.uk. As
chief scientist Mark leads on all scientific activities for Genomics England. He engages with NHS scientific
teams and the general public to promote, explain and enthuse about the 100,000 Genomes Project. Mark
also oversees the Clinical Interpretation Partnership.
― 4 ―
■ タイトル Implementation of genomic medicine from the perspective
of a United States healthcare system
■ 演　者 Marc S. Williams, M.D.
■ 所　属 Director, Genomic Medicine Institute, Geisinger Health System, U.S.A.
〈Synopsis〉
The United States health care system is undergoing significant change and is
seeking innovations in care delivery that will lead to improved value for patients,
providers, payers, and employers. Genomic medicine has the potential to be a
disruptive innovation that if implemented intelligently can improve value. This
talk presents the perspective of a large integrated healthcare delivery system
regarding the decision to invest in implementation of genomic medicine.
〈Short CV〉
Marc S. Williams, MD, FAAP, FACMG is an alumnus of the University of Wisconsin-Madison having
graduated with a BS in Chemistry in 1977, and an MD in 1981. He did a pediatric residency at the
University of Utah from 1981 to 1984 and pursued fellowship training in Clinical Genetics. He was board
certified in clinical genetics and clinical informatics. In 1999, he became the associate medical director of
the Gundersen Lutheran Health Plan while maintaining his genetic practice. From 2005 to 2011 he was the
director of the Intermountain Healthcare Clinical Genetics Institute in Salt Lake City, Utah. As of January
2012, he has been the director of the Genomic Medicine Institute of the Geisinger Health System in Danville,
Pennsylvania. He is the co-PI of the Geisinger Electronic Medical Records in Genomics (eMERGE) project,
is PI on the PCORI-funded Patient Facing Genomic Test Report research project, is a co-investigator on
the NHGRI-funded ClinGen project (leading the EHR integration efforts) and is the medical director of the
whole genome sequencing clinical research project. He represents Geisinger Health System on the NHGRI
funded Genomic Medicine working group. He served as a director of the board of the American College of
Medical Genetics and Genomics (ACMG) from 2006; elected Vice-President of Clinical Genetics of the College
(2009-2013). He has participated in a number of national committees, such as the Secretary’s Advisory
Committee for Genetics, Health and Society. He founded the American College of Medical Genetics Quality
Improvement Special Interest Group. He is the Editor-in-Chief of the Manual on Reimbursement for
Medical Genetic Services, is a member of the Clinical Pharmacogenetic Implementation Consortium, and
has participated in guideline creation and review for that group as well as participating in the informatics
workgroup. He is a member of genomic special interest groups of the American Medical Informatics
Association and Epic electronic health records. He is the Geisinger Health System representative to the
governing board of the Health Care Systems Research Network (formerly the HMORN) and the Clinical
Decision Support Consortium. He has authored over one hundred articles in the peer-review medical
literature.
― 5 ―
■ タイトル Impact of rare disease research on medicine
■ 演　者松原　洋一／ Yoichi Matsubara, M.D.
■ 所　属国立成育医療研究センター研究所　研究所長
Director of Research Institute, National Center for Child Health and Development (Tokyo, Japan)
希少疾患の多くは遺伝性疾患〈Synopsis〉
であり、すでにこれまでに病因 Most of rare diseases are genetic and the number
遺伝子が明らかにされた疾患は of identified pathogenic genes is rapidly increasing
4,000 種類を超えている。次世
since the introduction of next-generation sequencer.
代シークエンサーなどの新しい Pathogenic genes responsible for Mendelian
機器の導入によって、その数は disorders are indispensable for maintaining health in
急速に増加しつつある。このよ human beings. Therefore it is important to analyze
うなメンデル遺伝病の病因遺伝 characteristic clinical pictures associated with
子は、ヒトの健康維持にとって不可欠な遺伝子と考 each genetic mutation, which may not be readily
えられ、その遺伝子異常がもたらす特徴的な臨床症 elucidated by basic research using cells and animals.
状は、細胞や動物を用いた研究では得ることが難し There are multiple instances where rare disease
い重要な情報をもたらしてくれる。実際、希少遺伝 research led to the discovery of important medical
性疾患の研究から重要な医学的知見が発見されたり、 findings and the development of novel drugs for
一般的な病気に対する新薬開発への道を切り開く事 common diseases.
例が相次いで報告されている。
〈Short CV〉
〈略歴〉
Dr. Matsubara obtained MD degree from Tohoku
1979 年東北大学医学部を卒業後、神奈川こども医
University School of Medicine in 1979. After
療センターおよび東北大学病院にて研修。1982 年～
pediatric residency training, he was engaged in
ニューヨーク州立発達障害基礎研究所、1984 年～エー
rare disease research at Institute of Basic Research
ル大学人類遺伝学部門を経て、1988 年東北大学医学
in Developmental Disabilities (New York) and
部病態代謝学講座助手、翌年助教授。2000 年～東北
Department of Human Genetics at Yale University.
大学大学院医学系研究科遺伝病学分野教授。2013 年
He then served on the faculty of Tohoku University
より現職。2008 ～ 2012 年の間、国際人類遺伝学会連 and chaired Department of Medical Genetics
合（IFHGS）の President を務めた。
since 2000. He has joined NCCHD in 2013. He was
President of International Federation of Human
Genetics Societies (2008-2012).
― 6 ―
■ タイトル Personal genome analyses: Elucidation of molecular
bases of diseases and clinical implementation
■ 演　者辻　省次／ Shoji Tsuji, M.D., Ph.D.
■ 所　属東京大学医学部附属病院神経内科教授、ゲノム医学センター長
Department of Neurology, Graduate School of Medicine, The University of Tokyo
最近の分子遺伝学研究の進
〈Synopsis〉
歩により、遺伝性疾患の病因
Recent advances in molecular genetics have
遺伝子の解明、さらに、解明
revealed a number of causative genes for diseases
された病態機序に対して直接
with Mendelian trait, accelerating development
介入する効果的な治療法の開
of disease-modifying therapies for these diseases.
発が進んでいる。次世代シー
In particular, the availability of massively parallel
ケンサーの技術革新をはじめ
sequencing technologies employing next-generation
とする、ゲノム解析の技術の
sequencers is revolutionizing the neurogenomics
飛躍的な進歩により、遺伝性疾患だけでなく、孤発
view of neurological diseases. These advances in
性疾患（多因子疾患）の発症に関与する遺伝子の解
next generation sequencer technologies have been
明が進み、これらの疾患に対しても、有効性の高い
accelerating our effort to elucidate molecular bases
治療法の開発研究が発展している。さらに、診療面
of not only hereditary neurological diseases but also
においては、クリニカルシーケンシングとして、こ
sporadic neurological diseases. These advances are
れまで診断確定が困難だった多くの疾患に対して、
being rapidly implemented in the clinical practice.
診断確定を可能にし、ゲノム情報に基づき、治療法、
Future perspective toward better understanding
予防法の最適化をめざすゲノム医療が実現していく
molecular bases of diseases will be discussed.
と期待されている。
〈Short CV〉
〈略歴〉
1984-1987: Visiting Fellow, NINCDS, NIH
昭和 59 年 4 月：Visiting Fellow, National Institutes
1987-2002: Department of Neurology, Brain
of Health
Research Institute, Niigata University
昭和 62 年 5 月：新潟大学医学部附属病院神経内科
2002 – present: Department of Neurology, The
助手
University of Tokyo
平成 3 年 11 月：新潟大学脳研究所神経内科　教授
2011 – present: Director, Medical Genome Center,
平成 13 年 2 月：新潟大学脳研究所　所長
The University of Tokyo Hospital
平成 14 年 7 月：東京大学・大学院医学系研究科脳
神経医学専攻・神経内科
平成 23 年 4 月：東京大学医学部附属病院ゲノム医
学センター長
平成 27 年 4 月：東京大学ゲノム医科学研究機構長
― 7 ―
■ タイトル Clinical sequencing for precision cancer medicine in
National Cancer Center, Japan
■ 演　者河野　隆志／ Takashi Kohno, Ph.D.
■ 所　属国立がん研究センター研究所ゲノム生物学研究分野分野長
Chief, Division of Genome Biology, National Cancer Center Research Institute
私たちは肺腺がんの新たな
〈Synopsis〉
治療標的となりうる RET 遺伝
We identified the RET fusion gene present in 1-2%
子融合を 2012 年に同定し、翌
of lung adenocarcinomas as a new therapeutic
年、RET 融合陽性肺がんを対
target in 2012. A phase II investigator-initiated
象とした RET キナーゼ阻害薬
clinical trial of a RET kinase inhibitor, vandetanib,
バンデタニブの第Ⅱ相医師主
in patients with RET fusion-positive lung cancer
導治験を始動した。このため、
was commenced in 2013. For this purpose, a Nation-
本邦全都道府県に亘る 190 以
wide screening of RET fusion positive lung cancer,
上の病院からなる全日本での RET 融合陽性症例の
designated LC-SCRUM, involving >190 hospitals in
スクリーニング（LC-SCRUM）が行われている。一
all 47 prefectures, has also started. Multiplex gene
方、生検微小試料を用いたマルチプル遺伝子検査が
testing of biopsy samples is necessary to facilitate
肺がんや他のがんの個別化治療の拡大には必須であ
personalized molecular-targeted therapy of lung
る。本シンポジウムでは、当センターのクリニカル
and other cancers. A feasibility study of clinical
シークエンスの feasibility 研究について紹介し、議
sequencing conducted in the National Cancer
論の場とさせて頂く。
Center will be introduced and discussed.
〈略歴〉
〈Short CV〉
1991 年に京都大学薬学部修士課程を卒業、1995 年
1991
東京大学医学研究科卒業。医学博士。
1995 Univ. of Tokyo, Faculty of Medicine, Ph.D.
1995 年より、国立がん研究センター研究所研究員。
1995-00Researcher, Biology Div., National Cancer
2010 年より、ゲノム生物学研究分野分野長。
Center Research Institute (NCCRI)
2013 年より、先端医療開発センター TR 分野長を併
2000-10Section Head, Biology Div., NCCRI
任。
2010-
Chief, Div. Genome Biology, NCCRI
専門は、がん遺伝学、がん個別化治療
2013-
Chief, Div. TR, Exploratory Oncology
Univ. of Kyoto, Faculty of Pharmacy, MSc.
Research and Clinical Trial Center, NCC
Speciality: Cancer genomics and personalized
medicine
― 8 ―
■ タイトル Host genome analysis and its clinical application
to liver diseases
■ 演　者溝上　雅史／ Masashi Mizokami, M.D., Ph.D.
■ 所　属国立国際医療研究センター肝炎・免疫研究センター長
Director General, Research Center for Hepatitis and Medicine, National Center for Global Health and Medicine (NCGM)
ゲノムワイド関連解析
〈Synopsis〉
（GWAS）の応用によって、ゲ
Genome wide association study (GWAS) has
ノムを基盤とする医学研究が
opened a way of medical genome research. We
急速に発展した。同手法を用
have revealed the association of IL28B gene
いて、我々は C 型慢性肝炎の
polymorphisms with response to the treatment
治療効果を予測する因子とし
of chronic hepatitis C by GWAS approach. Then,
て IL28B 遺伝子多型を報告し、
SNPs of the IL28B gene were used for diagnosis
この遺伝子多型は、遺伝子検
before HCV treatment worldwide. We have also
査として世界各国で利用されるに至った。また、B
reported the association of a HLA-DP genotype
型肝炎においては、GWAS によって慢性肝炎の成立
with chronic infection and disease progression of
と病態の進展に HLA-DP が重要な因子であることを
hepatitis B. The association of HLA-DP genotype
報告した。HLA-DP の特定の型が、東アジア人で共
was detected in multi-population of Asian. To
通して重要であることを見出した。この結果に、ウ
improve the prediction of disease progression, we
イルスの遺伝子配列を新たな因子として統合解析す
will conduct an integration analysis using viral and
ることで、さらに予測精度を向上させられるため、
host genome sequences. These data would provide
現在その解析を実施している。そうすることで、真
a cost and time effective care for patients.
に治療が必要な患者を囲い込むことが可能と考えら
れ、コストや時間面で効率的な治療を施せるように
なる。
〈Short CV〉
1976: Dept. of Medicine, Nagoya City University,
M.D.
1989: Clinical Research Fellow, King's College
〈略歴〉
Hospital, Liver Unit
昭和 51 年：名古屋市立大学医学部卒業
2000: Professor, Dept. of Medicine, Nagoya City
平成元年：King's College Hospital, Liver Unit（英国）
University
Clinical Research Fellow
2008: Director General, Research Center for
平成 12 年：名古屋市立大学医学部教授
Hepatitis and Medicine, NCGM
平成 20 年：国立国際医療センター国府台病院肝炎･
免疫研究センターセンター長（現職）
― 9 ―
■ タイトル Toward systems medicine
（健康長寿とシステム医学）
■ 演　者洪　実／ Minoru S.H. Ko, M.D., Ph.D.
■ 所　属慶應義塾大学医学部坂口記念システム医学講座教授
Professor, Department of Systems Medicine, Keio University School of Medicine
システム医学では、大規模実〈Synopsis〉
験手法とビッグデータ解析手法
This presentation introduces systems thinking/
を組み合わせて、システムの構
systems approaches using genome-scale studies of
成要素を詳細に識別しつつ、そ
stem cells as an example. Then, Keio University’
の全体像の把握を目指します。 s efforts to apply systems approches to diagnosis
私たちは、このシステム医学的
and therapies in clinical settings are presented. In
アプローチで遺伝子ネットワー
particular, our efforts in developing frameworks and
ク、哺乳類初期発生、幹細胞の
informatics tools that allow Nation-wide integration
老化・分化を研究すると同時に、医療情報・網羅的
of health records and their application to Genomic
データ・ゲノム情報などの統合と全国ネットワーク
Medicine are discussed. [This part of work was
化、そして、その診断・治療への応用に力を注いで
partially supported by the Center-of-Innovation-
きました。本講演では、特に、平成２５－２６年度
Trial program from the Ministry of Eduction,
に文科省センターオブイノベーション・トライアル・
Culture, Sports, Science and Technology, Japan.]
プログラムでサポートされた慶應義塾大学「健康長
寿の世界標準を創出するシステム医学・医療拠点」〈Short CV〉
で得られた成果をご紹介します。
1986 M.D., 1991 Ph.D., Keio University School of
Medicine, Japan; 1988-1992 Researcher/Group
〈略歴〉
Leader, Furusawa MorphoGene Project, ERATO,
1986 年慶應義塾大学医学部卒。ERATO 古澤発生遺
JST, Japan; 1992-1998 Assistant Professor/Tenured
伝子プロジェクト研究員グループリーダー、1992 年
Associate Professor, Center for Molecular Medicine
米国ウェインステイト大学助教授、准教授、1998 年
& Genetics, Wayne State University School of
米国国立老化研究所（NIA/NIH）主任研究員（終身
Medicine, USA; 1998-2011 Senior Investigator/Chief,
在職権）
、
発生老化ゲノム学部門長。2012 年より現職。 Developmental Genomics & Aging Section, National
Institute on Aging, NIH, USA; 2012- Current
Position.
― 10 ―
■ タイトル From bench to bedside: the diagnosis and treatment
of intractable diseases
■ 演　者斎藤　加代子／ Kayoko Saito, M.D., Ph.D.
■ 所　属東京女子医科大学遺伝子医療センター所長／教授
Professor & Director, Institute of Medical Genetics, Tokyo Women's Medical University
遺伝医学の専門施設として
〈Synopsis〉
東京女子医科大学附属遺伝子
Our institute, which was established in 2004,
医療センターは 2004 年に設立
has broken new ground in the field of medical
され、臨床遺伝の専門職とし
genetics. The aim of our institute is to contribute
ての人材育成および、遺伝医
to advancements in medical genetics, as well as
学における進歩への寄与をそ
to develop human resources as Clinical Genetic
の目的としている。具体的に
Specialists. The first of our responsibilities is to
は、遺伝学的検査による確定
perform definitive diagnosis and the second is to
診断と難治性疾患の根本治療を目指している。ここ
cure intractable diseases. I will present an example
では、次世代シーケンサーを用いた神経筋疾患の診
of diagnosing neuromuscular disorders using the
断の 1 例と脊髄性筋萎縮症に対するバルプロ酸ナト
next generation sequencer. It is also my intention
リウムを用いた医師主導治験について述べる。
to discuss recent progress in the investigatorinitiated trial of valproic acid for spinal muscular
atrophy.
〈略歴〉
1999 年 3 月：東京女子医科大学小児科教授
〈Short CV〉
2001 年 4 月：東京女子医科大学大学院先端生命医科
April 2004 – Present: Professor & Director,
学系専攻遺伝子医学分野教授
Institute of Medical Genetics, Tokyo Women's
2004 年 4 月：現職
Medical University
April 2001 – Present: Professor, Branch of Genetic
Medicine, Advanced Biomedical Engineering
and Science, Graduate School of Medicine, Tokyo
Women's Medical University
March 1999 – Present: Professor, Department of
Pediatrics, Tokyo Women's Medical University
― 11 ―

Download Report