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
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
Clinical Geneticist/Patient Advocate
Gareth Baynam
Chair, Diagnostics Scientific Committee,
International Rare Diseases Research Consortium (IRDiRC),
Adjunct Policy Advisor on Clinical Genomics,
Western Australian Department of Health
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
PATIENT ADVOCACY GROUPS
Pamela K. Gavin
Chief Strategy Officer, National Organization for Rare Disorders (NORD)
Read bio
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
Patient Advocacy Groups
Kevin Huang
Founder and President,
Chinese Organization for Rare Disorders;
Rare Diseases International Member
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
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
Read bio
Patient Advocacy Groups
Maryam Matar
Founder and Chairperson
UAE Genetic Diseases Association
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
Patient Advocacy Groups
Mike Porath
Founder and CEO, The Mighty
Board Member, Dup15q Alliance
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
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
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
