Cambridge, Ma., Redmond, Wash., and Brussels, Belgium – February 20, 2018

Shire plc (LSE: SHP, NASDAQ: SHPG), Microsoft and EURORDIS-Rare Diseases Europe today announced a strategic alliance to address the diagnostic challenge for patients living with a rare disease. The long road to diagnosis is one of the most important issues affecting the health, longevity and well-being for rare disease patients and their families.

The Global Commission to End the Diagnostic Odyssey for Children (“the Global Commission”) is a multi-disciplinary group of experts with the creativity, technological expertise and commitment required to make a major difference in the lives of millions of children and their families. The Global Commission will develop an actionable roadmap to help the rare disease field to shorten the multi-year diagnostic journey, considered a key to a longer, healthier life.

Within its roadmap, the Global Commission will offer recommendations designed to address core barriers preventing timely diagnosis impacting all rare disease patients, of which approximately half are children, such as:
• Improving physicians’ ability to identify and diagnose patients with a rare disease in order to begin care and treatment
• Empowering patients and their families to have a more active role in their health care
• Providing high-level policy guidance to help achieve better health outcomes for rare disease patients

Under the leadership of its co-chairs, Flemming Ornskov, M.D., M.P.H., Chief Executive Officer, Shire, Simon Kos, M.D., Chief Medical Officer and Senior Director, Worldwide Health, Microsoft, and Yann Le Cam, Chief Executive Officer, EURORDIS-Rare Diseases Europe, the Global Commission will bring together a dedicated group of technology innovators, patient advocates, healthcare providers, researchers, family members and other experts from around the world to tackle one of the most serious and heartbreaking challenges within the rare disease space.

“As a physician with training in pediatrics, I’ve seen firsthand the devastating effect not having an accurate diagnosis can have on patients, their families, as well as on the health care providers working to help them. Accelerating the time to diagnosis is critical to improving outcomes for patients and health systems,” said Ornskov. “This Global Commission is passionate about bringing forward new and personalized solutions in diagnostics and I’m confident our work will help to transform the lives of children living with a rare disease.”

There are more than 6,000 identified rare diseases and it is estimated that rare diseases affect 300 to 350 million people worldwide.2 Many patients endure lifelong suffering and about half of all rare diseases begin in childhood.

“We have an opportunity to harness the power of technology to tackle this painful issue that has affected so many. We’re seeking innovative ways to integrate emerging technologies into our efforts, which will play a critical role as we strive to impact the diagnosis journey,” said Kos. “Microsoft is committed to this mission and I believe the Global Commission’s wide range of expertise, along with the infusion of technology, will change the state of rare disease diagnosis.”

The Global Commission is beginning its work in early 2018 and expects in early 2019 to publish a roadmap that encapsulates the findings of its work together. Over the course of 2018, the Global Commission will gather input from patients, their families, and other expert advisors to gain additional key insights and help drive solutions to speed the rare disease diagnosis timeline.

“Today, many children around the world are living with a rare disease that remains either undiagnosed or misdiagnosed. This can delay proper care and treatment and cause isolation, discrimination, social exclusion, and also contributes to a waste in human resources” said Le Cam. “We are excited to begin collaborating with such a distinguished and diverse group of experts and believe together we can facilitate and accelerate time to diagnosis helping families around the world.”

About the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease

The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease was created in collaboration by Shire, Microsoft and EURORDIS-Rare Diseases Europe. The purpose of the Global Commission is to establish a roadmap for the rare disease field that focuses on solutions to core barriers preventing timely diagnosis for all rare diseases – with an emphasis on those affecting children. The Global Commission brings together representatives from multiple sectors to provide diverse perspectives on rare disease diagnostics.

The Global Commission Members:

Flemming Ornskov, M.D., M.P.H., CEO, Shire (Co-Chair)

Simon Kos, M.D., Chief Medical Officer and Senior Director, Microsoft Worldwide Health (Co-Chair)

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

Moeen Al-Sayed, M.D., Chairman of Medical Genetics, King Faisal Specialist Hospital

Kym Boycott, M.D., Ph.D., FRCPC, FCCMG, Clinical Geneticist, Children’s Hospital of Eastern Ontario; Senior Scientist, CHEO Research Institute; and Professor, Department of Pediatrics, University of Ottawa

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

Kevin Huang, President, Chinese Organization for Rare Disorders

Derralynn Hughes, Ph.D., Clinical Director Haematology Oncology and Palliative care, Senior Lecturer and Investigator Lysosomal Storage Disorders Unit, Royal Free & University College Medical School

Daniel MacArthur, Ph.D., Institute Member, Co-Director of the Medical and Population Genetics Program, Broad Institute

Maryam Matar, M.D., Founder and Executive Director, UAE Genetic Diseases Association Dau-Ming Niu, M.D., Ph.D., Director, Center for Medical Genetics, Taipei Veterans General Hospital

Mike Porath, Founder and CEO, The Mighty

Arndt Rolfs, M.D., CEO, Centogene

Richard Scott, Ph.D., Clinical Lead Rare Disease, 100,000 Genomes Project at Genomics England 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 & Division Chief, Genetics and Metabolism, Children’s National

Durhane Wong-Rieger, Ph.D., President & CEO, the Canadian Organization for Rare Disorders and Council Member, Rare Diseases International

About Shire

Shire is the global leader in serving patients with rare diseases. We strive to develop best-in-class therapies across a core of rare disease areas including hematology, immunology, genetic diseases, neuroscience, and internal medicine with growing therapeutic areas in ophthalmics and oncology. Our diversified capabilities enable us to reach patients in more than 100 countries who are struggling to live their lives to the fullest.

We feel a strong sense of urgency to address unmet medical needs and work tirelessly to improve people’s lives with medicines that have a meaningful impact on patients and all who support them on their journey.

www.shire.com

About Microsoft

Microsoft (Nasdaq “MSFT” @microsoft) is the leading platform and productivity company for the mobile-first, cloud-first world, and its mission is to empower every person and every organization on the planet to achieve more.

About EURORDIS-Rare Diseases Europe

EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of over 700 rare disease patient organisations from more than 60 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe.

By connecting patients, families and patient groups, as well as by bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies and patient services. Follow @eurordis or see the EURORDIS Facebook page. For more information, visit www.eurordis.org.

For further information please contact:

Media

New York, NY, and Brussels, Belgium - Feb. 20, 2019

The Global Commission to End the Diagnostic Odyssey for Children (“the Global Commission”), co-chaired by Takeda, Microsoft and EURORDIS-Rare Diseases Europe, an alliance of more than 800 rare disease patient organisations, today announced its actionable recommendations in a report to address the barriers to diagnosis for people living with a rare disease.

In 2018, the Global Commission Co-Chairs, Shire (now Takeda), Microsoft, and EURORDIS, joined forces to bring together a multidisciplinary group of patient advocates, physicians and other experts to help solve the complex challenges impacting the rare disease community. Over the past year, the Global Commission gathered input from patients, families and other expert advisors to gain key insights to guide solutions to shorten the rare disease diagnosis timeline. The roadmap’s recommendations can be mapped back to three solution pathways:

1. Empowering patients and families: Create opportunities to develop tools for caregivers to connect seemingly unrelated symptoms, inquire about additional testing and work together with physicians to achieve a correct diagnosis.
2. Equipping frontline providers: Examine ways to equip physicians with the knowledge and tools to quickly and effectively identify patients who may have a rare disease and take appropriate action through solutions such as machine learning technology, expert-level guidance and genetic testing opportunities.
3. Empowering patients and families: Identify innovative ways to enable medical geneticists to see priority patients more quickly, such as standardizing reporting methods and utilizing telemedicine for increased access to more patients.

“There are more than 6,000 identified rare diseases, the vast majority of which begin in childhood, with patients receiving a misdiagnosis more than once in 40 percent of cases,” said Wolfram Nothaft, M.D., Chief Medical Officer of Takeda and Global Commission Co-Chair. “As champions for those living with a rare disease, we’ve outlined real solutions to lessen the time to diagnosis for the more than 300 million people affected worldwide.” ^1,2,3

“The too often long road to diagnosis presents one of the greatest challenges affecting the health, survival, well-being and indeed the very identity of people affected by a rare disease and their families. This report identifies concrete policy and technical actions, mobilizing diverse actors to build on genetic and digital cutting-edge advances.” said Yann Le Cam, Chief Executive Officer, EURORDIS-Rare Diseases Europe and Global Commission Co-Chair.

The Global Commission is supporting three pilot projects to bring its solution pathways to life, utilizing the expertise of its members and engaging like-minded partners who are pushing the boundaries of innovation. The pilot programs include 1) multifactorial machine learning to recognize symptom patterns, 2) collaboration tools for “intelligent triage” and clinical geneticist virtual panel consultation, and 3) developing a secure patient registry and rare disease passport, which may use emerging technologies like blockchain.

“We believe that technology provides an unheralded opportunity to help overcome the barrier of ‘rare,’ and unfortunately, ‘rare’ often means ‘off the radar,’” said Dr. Simon Kos, Chief Medical Officer and Senior Director, Microsoft Worldwide Health and Global Commission Co-Chair. “Many of our recommendations address distinct challenges within rare disease that technology is uniquely equipped to solve.”

In its roadmap, the Global Commission also emphasizes the importance of global policy frameworks for rare diseases to be recognized as an international public health priority. The policy recommendations, designed to support and enable the specific solution pathways, focus on four key areas: Centers of Excellence, Genetic Screening, Data Sharing and Privacy.

The Global Commission will discuss its recommendations live and via global livestream at the simultaneous roadmap launch events at Microsoft Headquarters in New York, NY and Brussels, Belgium, on February 20th, beginning at 11:00 a.m. ET / 6:00 p.m. CET. On February 28, in Beijing, China, coinciding with Rare Disease Day, the Global Commission will co-host a launch event with the Chinese Organization for Rare Disorders (CORD) to further discuss the implications of the Global Commission’s recommendations for the rare disease community.

For more information on the solutions and related research, the full report can be accessed here.

About the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease

The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease was created in collaboration by Takeda, Microsoft and EURORDIS-Rare Diseases Europe. The purpose of the Global Commission is to establish a roadmap for the rare disease field that focuses on solutions to core barriers preventing timely diagnosis for all rare diseases – with an emphasis on those affecting children. The Global Commission brings together representatives from multiple sectors to provide diverse perspectives on rare disease diagnostics.

The Global Commission Members:

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,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

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

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

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

About Takeda Pharmaceutical Company Limited

Takeda Pharmaceutical Company Limited (TSE:4502/NYSE:TAK) is a global, values-based, R&D-driven biopharmaceutical leader headquartered in Japan, committed to bringing Better Health and a Brighter Future to patients by translating science into highly-innovative medicines. Takeda focuses its R&D efforts on four therapeutic areas: Oncology, Gastroenterology (GI), Neuroscience, and Rare Diseases. We also make targeted R&D investments in Plasma-Derived Therapies and Vaccines. We are focusing on developing highly innovative medicines that contribute to making a difference in people's lives by advancing the frontier of new treatment options and leveraging our enhanced collaborative R&D engine and capabilities to create a robust, modality-diverse pipeline. Our employees are committed to improving quality of life for patients and to working with our partners in health care in approximately 80 countries and regions.

For more information, visit https://www.takeda.com.

About Microsoft

Microsoft enables digital transformation for the era of an intelligent cloud and an intelligent edge. Its mission is to empower every person and every organization on the planet to achieve more.

About EURORDIS-Rare Diseases Europe

EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of over 800 rare disease patient organisations from 70 countries that work together to improve the lives of the 30 million people living with a rare disease in Europe.

By connecting patients, families and patient groups, as well as by bringing together all stakeholders and mobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies and patient services. Follow @eurordis or see the EURORDIS Facebook page. For more information, visit www.eurordis.org.

For further information please contact:

Media

¹ European Medicines Agency. Orphan Medicines in the EU.
http://www.ema.europa.eu/docs/en_GB/document_library/Leaflet/2017/12/WC500240710.pdf

² Global Genes. Survey says: Misdiagnosis of rare diseases is common.
https://globalgenes.org/raredaily/survey-says-misdiagnosis-of-rare-diseases-is-common/.

³ Global Genes. RARE Disease: Facts and Statistics.
https://globalgenes.org/rare-diseases-facts-statistics/.