During the 2020 NORD Rare Diseases & Orphan Products Breakthrough Summit, four representatives from the Global Commission membership led a session to share the group’s progress and path forward. Speakers at the virtual event included Pamela Gavin, Chief Strategy Officer, National Organization for Rare Diseases (NORD), Mike Porath, Founder and CEO, The Mighty, Julian Isla, President and Founder, Foundation 29, and Debra Regier, Medical Geneticist, Rare Disease Institute, Children’s National Medical Center.

The first of three sessions on rare disease diagnosis, the speakers gave an overview of the Global Commission, shared updates on two technology pilots programs, discussed the group’s plans for an upcoming patient empowerment and awareness campaign and outlined the Global Commission’s path forward. Following the presentation, Global Commission representatives, including Linn Parrish, Global Patient & Scientific Affairs, Takeda, and Uzma Atif, Scientific Director of Innovative Health Partnerships, Takeda, held a digital round table discussion to answer further questions from attendees.

On October 8 and 9, the NORD Breakthrough Summit connected stakeholders from across the rare disease space to advance meaningful dialogue with an aim to improve the lives of over 25 million Americans living with rare diseases. Key topics addressed at the summit included the COVID-19 pandemic’s impact on the rare disease community, rare disease diagnosis, drug pricing, advancements in technology and tools for accelerating cures.

An opinion piece written by the three Global Commission co-Chairs was published in STAT News about the impact telegenetic consultations can have on rare disease diagnosis. In the article, posted to the outlet’s First Opinion section, Wolfram Nothaft, Chief Medical Officer, Takeda, Yann Le Cam, Chief Executive Officer, EURORDIS–Rare Diseases Europe and Gregory Moore, Corporate Vice President, Microsoft Health share how the growing acceptance and evolution of telehealth can change the diagnostic journey for rare disease patients. The piece specifically outlines key learnings observed from the Global Commission in its ongoing program piloting digital collaboration tools at Children's National Medical Center in Washington, D.C.

This pilot uses virtual tools including facial recognition, video appointments and a triaging system to deliver genetic assessments and consultations remotely to patients and primary care physicians. Since the inception of this pilot program in 2019, the average time a patient waits to see a clinical geneticist has decreased from three to four months to just six to eight days. The Global Commission expects to expand pilot testing beyond Washington D.C., to other U.S sites including regional pediatric societies in 2021, before expanding to national pediatric societies and other countries.

Read the full article featured in the STAT’s First Opinion section here: Using telehealth to revolutionize the speed of making rare disease diagnoses

The First Opinion series published by STAT News highlights perspective and opinion on medicine, biotechnology and the life sciences from key stakeholders across the healthcare industry.

During the World Orphan Drug Congress (WODC) USA 2020, five representatives from the Global Commission led sessions or participated in group panels at the annual conference, which went virtual this year. Topics varied from examining how patients are driving meaningful development of therapies and what companies are doing to incorporate patient input, to the impact of COVID-19 on access to care, digital medicine and pending obstacles for the rare disease patient community.

The Global Commission members who shared their insights and presented at the virtual meeting from August 24-27 included:

• Pamela Gavin, Chief Strategy Officer, National Organization for Rare Disorders
• Dr. Maryam Matar, Founder and Chairperson, UAE Genetic Diseases Association
• Dr. Marshall Summar, Chief of Genetics and Metabolism, Children’s National Medical Center and Director, Rare Disease Institute
• Durhane Wong-Rieger, President & Chief Executive Officer, Canadian Organization for Rare Disorders and Chair, Rare Diseases International

Linn Parrish, Global Patient & Scientific Affairs, Takeda also presented an overview of the Global Commission, the group’s progress to date and next steps and answered questions from attendees during a live Q&A session.

Celebrating its 10^th anniversary this year, the WODC 2020 virtually gathered more than 1,500 leading industry, government and regulatory authorities, patient advocacy groups and other solution providers from 50 countries and featured over 300 speakers who covered aspects of orphan drug development and rare disease research. Attendees were able to digitally meet, brainstorm and discuss ways to advance orphan drug development and improve access to life-saving therapies.

In a piece recently published on CheckRare.com, Dr. Gareth Baynam discusses why he joined the Global Commission earlier this year and shares detail on how he plans to use his expertise as a clinical geneticist, genomic policy advisor and patient advocate to contribute to the group’s goal of accelerating the time to diagnosis for children living with a rare disease. Dr. Baynam specifically elaborates on the importance of standardizing reporting methods and the use of telemedicine – two key recommendations from the Global Commission’s Year One Report. Check out the full Q&A article to learn more about Dr. Baynam and his continued efforts to advocate and implement methods improving the diagnostic journey.

Dr. Gareth Baynam serves as Chair of the Diagnostics Scientific Committee of the International Rare Diseases Research Consortium (IRDiRC) and is the Adjunct Policy Advisor on Clinical Genomics at the Western Australian Department of Health.

During the DIA 2020 Global Annual Meeting, the Global Commission delivered a presentation led by representatives Gregory Moore, Corporate Vice President, Microsoft Health, Marshall Summar, Chief of Genetics and Metabolism, Children’s National Medical Center and Director, Rare Disease Institute and Donatello Crocetta, Global Medical Head, Rare Immunology and Metabolic Diseases, Takeda.

In the on-demand session, the speakers gave an overview of the Global Commission and its progress to date, shared initial findings from the group’s innovative technology pilot programs and explained its path forward to accelerate time to diagnosis for children with a rare disease.

The DIA 2020 Global Annual Meeting took place virtually from June 14-18, and brought together thousands of patients, industry, regulators, and academia from more than 50 countries to collaborate, network and advance efforts on the most pressing issues facing the life sciences industry.

During the recent 10th Annual European Conference on Rare Diseases & Orphan Products (ECRD), the Global Commission presented a progress update and sponsored a virtual booth, connecting with hundreds of people from within the rare disease community including clinical workers, patient advocacy groups, and policymakers. The Global Commission presented updates on the innovative technology pilots the group has been advancing, discussed plans for its upcoming patient empowerment campaign and outlined the path forward to accelerate the time to diagnosis for children with a rare disease.

The event was moderated by Mike Porath, Founder and CEO of The Mighty, and featured commentary from Global Commission Co-Chairs Wolfram Nothaft, Chief Medical Officer, Takeda; Gregory Moore, Corporate Vice President, Microsoft Health; Yann Le Cam, Chief Executive Officer at EURORDIS-Rare Diseases Europe and other experts: Pamela Gavin, Chief Strategy Officer, National Organization for Rare Disorders; Julian Isla, President, Foundation 29; Matthew Osmond, Genetic Counselor, Children’s Hospital of Eastern Ontario; and Marshall Summar, Chief of Genetics and Metabolism, Children’s National Medical Center and Director, Rare Disease Institute.

Pilot 1: Multifactorial Machine Learning to Recognize Symptom Patterns

Since the launch of the Global Commission’s Year-One Report outlining actionable recommendations to end the diagnostic odyssey, the group has been supporting Foundation 29 in their development and testing of a digital platform called Dx29 for clinicians. The tool uses artificial intelligence to support frontline providers by linking disparate symptoms and expediting patient diagnosis. In test cases, Dx29 has helped lead to a correct diagnosis 79% of the time and the team is currently evolving the tool to enable patients to utilize the platform’s capabilities.

Pilot 2: Collaboration Tools for “Intelligent Triage” and Clinical Geneticist Virtual Panel Consultation

Now more than ever, healthcare providers are looking for innovative solutions to help them care for patients in efficient, effective ways. The second pilot, launched at Children’s National Hospital in Washington, D.C., utilizes telemedicine to enable physicians and specialists to more easily collaborate using virtual tools – such as facial recognition, telehealth video appointments, and a triaging system. By delivering genetic assessments and remotely counseling patients and primary care physicians, it reduces the time and cost burden of in-person consultations for patients who often see multiple specialists before receiving a rare disease diagnosis.

Patient Empowerment and Awareness Campaign

The Global Commission is developing a multi-channel patient empowerment and awareness campaign in close partnership with medical experts, local patient organizations, and other partners to increase awareness of rare diseases among parents and caregivers searching for a diagnosis for their child. As part of their phased approach, the group is planning to launch in select pilot markets to gather information and learnings prior to a global rollout.

To learn more about the Global Commission, watch this brief video which provides an overview of the group’s progress to date and path forward. A recording of the full ECRD session can also be found here.

The Global Commission is excited to announce that Gregory J. Moore, MD, PhD, Corporate Vice President of Microsoft Health, has joined the Global Commission as the Microsoft co-Chair. Dr. Moore’s unique experience as an engineer, practicing neuroradiologist, clinical informaticist, neuroscientist, and global health leader will make Greg an incredibly valuable partner as the Global Commission works to advance their recommendations to accelerate the time to diagnosis for children living with a rare disease.

Dr. Moore leads Microsoft’s Health efforts globally and is responsible for product strategy, product development, and research including AI and machine learning technology for healthcare and life sciences. He is also Microsoft’s senior executive leading dedicated research and development collaborations with Microsoft’s strategic alliance partners in this domain with the goal of enabling a more open, interoperable, and AI-infused foundation for healthcare delivery that aspires to enable access to healthcare for all globally.

Prior to joining Microsoft, Dr. Moore was Vice President Google Inc, Google Cloud Healthcare & Life Sciences and founder of the healthcare vertical for Google Cloud. Prior to his leadership appointment at Google, he was Chief Emerging Technology and Informatics Officer at Geisinger Health System where he also was Director of the Institute for Advanced Application and served as Interim Chair of System Radiology.

To learn more about Dr. Moore, please view his bio here.

At the National Organization for Rare Disorders (NORD) Rare Disease Day: Mission 2020 event at the International Spy Museum in Washington, DC, the organization held a panel discussion titled “Investigating the Rare Disease Odyssey” for the 150 attendees including patients, families and advocates.

Panelists described the clues and red herrings experienced by rare disease patients, physicians and industry partners on the odyssey to arrive at an accurate diagnosis. Participants included a caregiver who described her son's diagnostic odyssey, and a young woman who spoke to her own ongoing diagnostic odyssey. During this event, NORD Director of Research, Vanessa Boulanger, referenced the work of the Global Commission as being essential for the rare disease community to support in order to end the diagnostic odyssey faced by patients.

Mission 2020 was a day of fun and intrigue for patients, families and other rare community supporters to celebrate Rare Disease Day and uncover the truth behind their stripes.

An article co-authored by the three Global Commission Co-Chairs was featured in the World Economic Forum (WEF) Agenda series in recognition of Rare Disease Day on February 29. In the article, Wolfram Nothaft, Chief Medical Officer at Takeda, Yann Le Cam, Chief Executive Officer of EURORDIS–Rare Diseases Europe and Clifford Goldsmith, U.S. CMO and National Director, Providers at Microsoft Health and Life Sciences, discuss the impact of the diagnostic odyssey for rare disease patients and how the Global Commission is embracing public-private partnership and innovative technology to solve it.

The Co-Chairs review progress on three cutting-edge technology pilot projects, and the Global Commission’s hope that these programs will inform a common framework that could act as a resource for similar projects worldwide and encourage collaboration and progress in rare disease diagnosis.

The World Economic Forum’s Agenda blog series calls attention to key issues shaping Global, Regional and Industry agendas. The Global Commission was recently recognized by the World Economic Forum in its Lighthouse Project list of leading 100 projects.

The work of the Global Commission was featured in an article in Forbes that focuses on the unique challenges faced by rare disease patients, including the long road to diagnosis, and highlights the innovations that are helping to bridge this gap.

The piece highlights five cutting-edge solutions that have the potential to have a positive impact on people living with a rare disease, including the Global Commission’s work to leverage artificial intelligence and machine learning to improve the diagnostic process, in reference to the technology pilot program being spearheaded by Foundation29. This article emphasizes the importance of cross-collaboration between disciplines working towards the common goal of redefining the diagnostic process for patients and ultimately improving the lives of millions of people worldwide affected by a rare disease.

In recognition of Rare Disease Day on February 29, 2020, High Hopes Pediatric Therapy Center Dubai will hold a Rare Disease Day Walk beginning at 3:30 p.m. GST in Wire World Adventure Park Kite Beach, Jumeirah. This event is open to the public and will include multiple activities and giveaways for attendees.

The Rare Disease Day Walk is intended to include people of all nationalities, abilities and from all walks of life to celebrate the efforts of the United Arab Emirates (UAE) to encourage inclusion and help families with rare diseases. See the images below for additional information.

Information about this event was provided by Her Excellency Dr. Maryam Matar, Founder and Chairperson of UAE Genetic Diseases Association, United Arab Emirates.

Diagnostic Odyssey Highlighted at Medics 4 Rare Diseases Symposium

During the Medics4RareDiseases annual symposium titled “The unusual suspects: Rare diseases in everyday medicine,” Dr. Richard Scott, Clinical Director at Genomics England and Consultant in Clinical Genetics at Great Ormond Street Hospital, presented on the importance of reducing the diagnostic odyssey for rare disease patients and the complex identification process. Dr. Scott is a member of the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease.

During the session, Dr. Scott provided an overview of the diagnostic odyssey, and explained why often times suspecting a rare disease as a possibility in the first place can be a barrier to diagnosis. He encouraged the audience of healthcare professionals to “think rare” and shared that “you should be empowered to consider rare disease and ask the question.” Dr. Scott also discussed the application of new genetic technology to facilitate diagnosis, and the use of genomics in everyday medicine. A full recording of Dr. Scott’s presentation can be found here.

The symposium took place on February 19 at the Royal Society of Medicine in London, England and brought together a faculty of top speakers to explore how rare diseases are relevant in everyday clinical medicine to the audience composed of medical professionals. The aim of this unique meeting was to teach the audience about the broad concepts of rare disease and offer pragmatic advice about how to diagnose and manage rare diseases in everyday medicine.

"It is really important that the medical profession hears from specialists, like Dr. Richard Scott, that rare diseases are everyone's responsibility to look out for and manage. After all, he will not be able to help patients to find their specific rare diagnosis if a generalist along the way doesn't suspect a rare disease and ask for help in the first place," Dr. Lucy McKay, Chief Executive Officer of Medics4RareDiseases explained.

Medics4RareDiseases is a UK registered charity that is driving an attitude change towards rare diseases amongst doctors and medical students. They are teaching doctors, from early in their careers, to #DareToThinkRare in order to reduce the Diagnostic Odyssey. To find out more visit www.m4rd.org.

During the Undiagnosed Diseases Network International’s (UDNI) 8^th International Conference on Rare and Undiagnosed Diseases which took place from February 7-8 in Nijmegen, the Netherlands, Durhane Wong-Rieger, PhD, Chair of the Council of Rare Diseases International and President & CEO of the Canadian Organization for Rare Disorders, led a presentation about the Global Commission.

In her presentation, which was during a session dedicated to international initiatives, Durhane gave background about the diagnostic odyssey, explained how the Global Commission’s recommendations and pilot programs will accelerate time to diagnosis for rare disease patients and shared information about the Global Commission’s path forward.

During the SMi 9^th Annual Orphan Drugs and Rare Diseases Conference in London, UK, Donatello Crocetta, MD, MBA, VP, Head of Rare Immunology Franchise at Takeda Global Medical Affairs, represented the Global Commission and reviewed findings from the group’s Year One Report.

The presentation, titled “Charting the path to diagnosis for patients with rare diseases,” provided the audience with an overview of the Global Commission and its actionable recommendations, as well as an update about current progress and the vision moving forward.

The Orphan Drugs and Rare Diseases Conference brought together an audience of key solution providers, biotechnology companies, clinical researchers, regulatory professionals and charity leaders to discuss ways to accelerative orphan drug development and expand treatment access for rare disease patients.

The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease strongly supports the inclusion of rare disease in the UN Political Declaration on universal health coverage (UHC) which was adopted by all 193 Member States on September 23, 2019.

Rare diseases affect more than 300 million people worldwide, with approximately half of rare diseases beginning in childhood. An accurate and timely diagnosis can be the key to a longer, healthier life, however, on average it takes six to eight years before a person with a rare disease receives the correct diagnosis.

With the inclusion of rare disease in UHC, the increased recognition of rare diseases may ultimately lead to accelerating diagnosis by improving efficiency, reducing costs, and increasing patient access. These benefits provide the potential to overcome the primary barrier to early and efficient recognition of a patient with a rare disease.

The Global Commission’s actionable recommendations aim to improve the lives of millions, addressing distinct challenges within three solution tracks: 1) Empowering Patients and Families, 2) Equipping Frontline Providers with Tools for Diagnosis and Referral, and 3) Reimagining the Genetic Consultation.

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.

Learn more here.

Global Commission Presentations at European Society of Immunodeficiencies Meeting

At the 2019 Focused Meeting of the European Society of Immunodeficiencies (ESID) held in Brussels, Sept 18 – Sept 22, Donatello Crocetta, MD, MBA, VP, Head of Rare Immunology Franchise in Takeda Global Medical Affairs, represented the Global Commission, presenting key sessions throughout the course of the week in Brussels, Belgium.

Dr. Crocetta presented at different sessions including the “Knowledge Exchange” and “Meet the Expert” to over 150 global attendees. During these sessions, Dr. Crocetta gave an overview of the diagnostic odyssey, the Global Commission and the findings from the group’s report. The Global Commission caught a lot of interest and stimulated several questions on the current pilots and future activities.

ESID 2019 focused on the fascinating and important intertwinement between primary immunodeficiencies, infections and malignancy.

A recent scientific paper published in the European Journal of Human Genetics written by Orphanet (coordinated by INSERM, the French National Institute of Health and Medical Research), and EURORDIS-Rare Diseases Europe and Orphanet Ireland (based at the National Rare Diseases Office, Mater Misericordiae University Hospital, Dublin, Ireland) announced an estimate of the global point prevalence of rare diseases based on an analysis using the epidemiological data in the Orphanet database.

Findings presented in the paper, based on the analysis of the 67.6% of the prevalent diseases, include that:

• 149 rare diseases analyzed affect around 80% of the rare disease population. These diseases are the most prevalent among the diseases, with each affecting 100 – 500 people per 1 million.
• The next most prevalent 241 rare diseases analyzed affect 10 – 100 people per 1 million people.
• Collectively, these nearly 400 diseases affect at least 98% of the rare disease population with a prevalence of 10 – 500 people per 1 million people. They can be grouped by therapeutic areas and care services built around these therapeutic areas.
• The remaining diseases analyzed are the less prevalent diseases as they affect less than 10 people per 1 million people.

This study found that rare diseases currently affect at any point in time 3.5% - 5.9% of the worldwide population, equivalent to a conservative estimate of 300 million people worldwide.

“Collectively rare diseases are not rare,” said Yann Le Cam, co-author of the paper, Chief Executive Officer of EURORDIS, Global Commission Co-Chair and member of the Council of Rare Diseases International. “The findings published in this paper support years of efforts from the rare disease community to advocate for the prioritisation of rare diseases as a public health priority that affects millions of people around the world, not just the few. No one can deny the significance of the global rare disease population anymore, a critical mass of people who have been the health orphans so far, with acute needs for healthcare, access to innovative treatments and a social system that supports their right to reach their highest potential of well-being.”

Read the full statement from EURORDIS here.

April 10-12, Oxon Hill, Maryland

Last month, seven Global Commission members discussed the most pressing challenges and opportunities to bring rare disease therapies to patients faster at the World Orphan Drug Congress (WODC) USA 2019.

Global Commission members including Yann Le Cam, Chief Executive Officer of EURORDIS-Rare Diseases Europe, Simon Kos, Chief Medical Officer and Senior Director, Microsoft Worldwide Health, Marshall Summar, Division Chief of Genetics and Metabolism, Children's National Medical Center, Arndt Rolfs, Chief Executive Officer, CENTOGENE LLC, Mike Porath, Founder and CEO, The Mighty and Durhane Wong-Rieger, Chair of the Council of Rare Diseases International and President of the Canadian Organization for Rare Disorders spoke at this impactful event. Linn Parrish, Corporate Social Responsibility (CSR) at Takeda also presented an overview of the Global Commission and the group’s recent report to key stakeholders.

The WODC brought together a global gathering of more than 1,200 leaders in orphan drugs from 50 countries and featured over 135 presentations covering all aspects of orphan drug development and rare disease research.

March 26 – 28, Redmond, WA

At the Microsoft Executive Industry Summit held at the Microsoft Headquarters, Linn Parrish, CSR, Takeda, presented an overview of the Global Commission and its findings, along with Julian Isla Gomez, Microsoft, who demonstrated the technology pilot program that he and members of Foundation 29 (a foundation that Isla founded) have been developing with the support of the Global Commission. The pilot Isla and the Foundation 29 team are developing uses artificial intelligence to support frontline providers by recognizing symptoms and expediting patient diagnoses. Parrish and Isla also discussed how companies can contribute their resources for social good. The event was attended by C-level executives from Microsoft’s top 400 customers.

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. Reimagining the genetic consultation: 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/.

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.

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