Global Commission ????????????????? ???????????????????????? 3 ?????? ?????????????????????????????????????????????????????? ? ????????????????????????????????????

?????????????????????????????????????????????? ???????????????????????????????????????????????????????????????????????????????????????????????????????????????? ??????????????????????? 5 ?? ?????????????????????????????????

???????? ??? ?????????—21 ?.?.—???????????????/???????????

Global Commission to End the Diagnostic Odyssey for Children (???? "Global Commission") ????????????????????, ?????????? ??? EURORDIS-Rare Diseases Europe ?????????????????????????????????????????? 800 ?????? ???????????????? ????????????????????????????????????????????????????????????????????????????????????

???? 2561 ????????????? Global Commission ?????????????? ???? (??????????? ??????), ?????????? ??? EURORDIS ??????????????????????????????????????????????? ?????????????????????????????????????? ????? ????????????????????????? ? ???????????????????????????????????????????????????????????????????? ???????????????? Global Commission ??????????????????????????????? ???????? ??????????????????????????????????? ?????????????????????????????????????????????????????????????????????????????????????????????????????????????????????? ???????????????????????????????????????????????????????????? 3 ????????????? ??????

1. ??????????????????????????????:???????????????????????????????????????????????????????????????????????????????????????????????? ???????????????????????????????? ??????????????????????????????????????????????
2. ???????????????????????????:???????????????????????????????????? ??????????????????????????????????????????????????????????????????????????????????????????????????? ???????????????????????????????????????? ? ???? ?????????????????????????????? ???????????????????????? ??????????????????????????????
3. ???????????????????????????????????????: ???????????? ? ??????????????????????????????????????????????????????????????????????? ???? ????????????????????????????????? ??????????????????????????????????????????????????????

"??????????????????????????????? 6,000 ???? ????????????????????????????????????????????? ??????????????? 40% ???????????????????????????????????????????????????????" ??. Wolfram Nothaft ?????????????????????????????????????? ???????????????? Global Commission ????? "??????????????????????????????????????????????????? ??????????????????????????????????????? ?????????????????????????????????????????????????????????? 300 ?????????????" ^1,2,3

Yann Le Cam ?????????????????????????? EURORDIS-Rare Diseases Europe ???????????????? Global Commission ???????? "??????????????????????????????????? ??????????????????????????????? ? ?????????????????????? ?????????? ????????????????? ??????????????????????????????????????????????????????????? ????????????????????????????????????????????????????????????? ??????????????????????????????????????????????????????????????????????????????????????????????"

???????? Global Commission ??????????????????????????? 3 ??????? ???????????????????????????????????? ?????????????????????????????? ???????????????????????????????????????????????????????????????????????????? ? ????????????????????? ?????? 1) ????????????????????????????????????????????????????????????????????? 2) ????????????????????????? "????????????????????????" ???????????????????????????????????????????????????????? ??? 3) ??????????????????????????????????????????????????????????????????????????? ?????????????????????? ? ???? ???????? ????????????????????

"??????????? ?????????????????????????? ? ??????????????????????????????? '?????' ????????????????? ?????????????? ????? '?????' ??????????????? '????????'" ??. Simon Kos ???????????????????????????????????????????????? Microsoft Worldwide Health ???????????????? Global Commission ????? "?????????????? ? ????????????????????????????????? ? ??????????????? ???????????????????????????????????????"

?????????????????? Global Commission ???????????????????????????????????????????????????????????? ?????????????????????????????????????????????????????????????????? ???????????????????????????????????????????????????????????????????????????? ??????????????? 4 ????????????? ?????? ????????????????? ?????????????????????????? ???????????????? ??????????????????

??????? Global Commission ???????????????????????????????????? ???????????? ??????????????????????????????????? ? ????????????????????????? ????????????? ??????????? ??????????????? ?????????????? ?????? 20 ?????????? ???????????????? 11.00 ?. ??????? ET / ???? 18.00 ?. ??????? CET ????????????????????? ????????? ???????? 28 ?????????? ????????????????????? ??? Global Commission ??????????????????????????????????????? Chinese Organization for Rare Disorders (CORD) ??????????????????????????????????????? Global Commission ????????????????

?????????????????????????????????????????????????????????????????????? ???????????????????? ?????????????????

????????? Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease 
Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease ???????????????????????????????, ?????????? ??? EURORDIS-Rare Diseases Europe ?????????????????????????????????????????????????????? ???????????????????????????????????????? ? ??????????????????????????????????????????? ???????????????????????????? ? Global Commission ?????????????????????? ? ?????????????????????????????????????????????????????????????

Simon Kos, MBBS, BSc (Med), MBA, Chief Medical Officer and Senior Director, Microsoft Worldwide Health (Co-Chair)

Yann Le Cam, Chief Executive Officer, EURORDIS-Rare Diseases Europe (Co-Chair); Rare Diseases International Council Member

Wolfram Nothaft, M.D., Chief Medical Officer, Takeda (Co-Chair)

Moeen AlSayed, M.D, FACMG, MBA, Professor of Genetics, College of Medicine, Alfaisal University, Director, MSc Genetic Counselling Program, Alfaisal University Chairman, Department of Medical Genetics King Faisal Specialist Hospital & Research Center

Kym Boycott, M.D., Ph.D., FRCPC, FCCMG, Clinical Geneticist, Senior Scientist, CHEO Research Institute; Professor, Department of Pediatrics, University of Ottawa

Pamela K. Gavin, MBA, Chief Strategy Officer, National Organization for Rare Disorders

Roberto Giugliani, M.D., Ph.D., Professor, Department of Genetics, Federal University of Rio Grande do Sul; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil

Kevin Huang, Founder and President, Chinese Organization for Rare Disorders; Rare Diseases International Member

Anne O'Donnell-Luria, M.D., Ph.D., Associate Director, Center for Mendelian Genomics, Broad Institute; Physician, Division of Genetics and Genomics, Boston Children's Hospital

Maryam Matar, M.D., Founder and Executive Director, UAE Genetic Diseases Association

Dau-Ming Niu, M.D., Ph.D, Chairman, Department of Pediatrics, Director, Medical Genetics Center, Taipei Veterans General Hospital; Professor, Institute of Clinical Medicine, National Yang Ming University

Mike Porath, Founder and CEO, The Mighty; Board Member, Dup15q Alliance

Arndt Rolfs, M.D., CEO, Centogene

Richard Scott, Ph.D., Clinical Lead for Rare Disease, 100,000 Genomes Project at Genomics England and Consultant and Honorary Senior Lecturer in Clinical Genetics, Great Ormond Street Hospital for Children and the UCL Institute of Child Health

Marshall Summar, M.D., Director: Rare Disease Institute, Chief, Genetics and Metabolism Margaret O'Malley Chair of Genetic Medicine Children's National Medical Center, Washington, D.C. Professor of Pediatrics, George Washington School of Medicine

Derralynn Hughes, Ph.D., Professor Experimental Haematology, University College London and Royal Free London NHS Foundation Trust

Durhane Wong-Rieger, Ph.D., President & CEO, the Canadian Organization for Rare Disorders; Council Chair, Rare Diseases International; Director, Asia Pacific Alliance of Rare Disease Organization

?????? ?????? ????????????? ????? 
?????? ?????? ????????????? ????? (TSE:4502/NYSE:TAK) ??????????????????????????? ???????????????????????????????????????????????????????????????-????? (R&D) ??????????????????? ?????????????????????????????????????????????????????????? ?????????????????????????????????????????????????????? ?????????????????????????????-??????????????? 4 ??????????? ?????? ????????????? ???????????????? (GI) ??????????? ??????????? ????????? ???????????????????????-?????????????????????????????????????? ???????????????????????????????????????????????????????????????????????????? ?????????????????????????? ? ?????????? ????????????????????????????????????????????????? R&D ??????????????????????????????????????????????????????? ????????????????????????????????????????????????????????????? ????????????????????????????????????????????????? 80 ????????????????

??????????????????????????

????????? ??????????
?????????? ????????????????????????????????????????????? ???????????????????????????????????????????????????????????????????? ?????????????????????????????????????????????????????????????????????????????????????????????????

????????? EURORDIS-Rare Diseases Europe 
EURORDIS-Rare Diseases Europe ?????????????????????????????????? ?????????????????????????????????????????????????? 800 ???????? 70 ?????? ?????????????????????????????????????????????????????????????? 30 ?????????????  

EURORDIS ???????????????? ???????? ?????????????????????????? ??????????????????????????????????????????? ?????????????????????????????? ????????????????????????????????? ?????????????????????????? ?????? ????????????? ? ????????????? ??????  ???? ??????????????????????????

????????????????????? ???????????:

?????????:  
Kate Hardin, Ruder Finn, , +1 212.593.5890 

???????:

¹ European Medicines Agency. Orphan Medicines in the EU.   
² Global Genes. Survey says: Misdiagnosis of rare diseases is common. .  
³ Global Genes. RARE Disease: Facts and Statistics.