Global Commission

to End the Diagnostic Odyssey for Children with a Rare Disease

A global, cross-sector
approach to overcoming
the barriers to diagnosis

The Global Commission Co-Chairs

Simon Kos

Chief Medical Officer & Sr. Director
Microsoft Worldwide Health

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Yann Le Cam

Chief Executive Officer
EURORDIS–Rare Diseases Europe

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Wolfram Nothaft

Chief Medical Officer
Takeda

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The Global Commission Members

The group of Global Commissioners reflects a wide range of perspectives and experiences – from patient advocacy groups, academic/research institutions, hospital and health systems, policy organizations, technology companies and biotechnology companies. Please see below for member biographies.

research hospitals

Moeen AlSayed

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

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Leading Academic/Research Institutions

Kym Boycott

Clinical Geneticist, Children’s Hospital of Eastern Ontario
Senior Scientist, CHEO Research Institute
Professor, Department of Pediatrics, University of Ottawa

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PATIENT ADVOCACY GROUPS

Pamela K. Gavin

Chief Strategy Officer, National Organization for Rare Disorders (NORD)

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Research Hospitals

Roberto Giugliani

Medical Genetics Service, Hospital de Clinicas de Porto Alegre
Professor of Medical Genetics, Federal University of Rio Grande do Sul, Brazil

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Patient Advocacy Groups

Kevin Huang

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

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Research Hospitals

Derralynn Hughes

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

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Leading Academic/Research Institutions

Anne O’Donnell-Luria

Associate Director, Center for Mendelian Genomics, Broad Institute; Physician, Division of Genetics and Genomics, Boston Children’s Hospital

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Patient Advocacy Groups

Maryam Matar

Founder and Chairperson
UAE Genetic Diseases Association

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Research Hospitals

Dau-Ming Niu

Chairman, Department of Pediatrics,
Director, Medical Genetics Center,
Taipei Veterans General Hospital.
Professor, Institute of Clinical Medicine,
National Yang Ming University

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Patient Advocacy Groups

Mike Porath

Founder and CEO, The Mighty
Board Member, Dup15q Alliance

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Diagnostics

Arndt Rolfs

Chief Executive Officer
Centogene

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Leading Academic/Research Institutions

Richard Scott

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

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Research Hospitals

Marshall Summar

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

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Patient Advocacy Groups

Durhane Wong-Rieger

President & CEO, the Canadian Organization for Rare Disorders
and Council Member,
Rare Diseases International, Director,
Asia Pacific Alliance of Rare Disease Organizations

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