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

The Global Commission Co-Chairs

Alaa Hamed

Global Head of Medical Affairs Rare Diseases, Sanofi

Yann Le Cam

Founder & Past-CEO, EURORDIS – Rare Diseases Europe

Wolfram Nothaft

Chief Medical Officer, Takeda

The Global Commission Members

The Global Commission is a multidisciplinary group of rare disease advocates, researchers, physicians, and innovators from across the globe. Please see below for member biographies.

RESEARCH HOSPITALS

Moeen AlSayed

Professor of Genetics, College of Medicine, Alfaisal University & Consultant, Dept. of Medical Genomics, King Faisal Specialist Hospital
CLINICAL GENETICIST/PATIENT ADVOCATE

Gareth Baynam

Medical Director, Rare Care Center, Perth Children’s Hospital & Chair, Interdisciplinary Committee, International Rare Diseases Research Consortium
LEADING ACADEMIC/RESEARCH INSTITUTIONS

Kym Boycott

Professor of Pediatrics, University of Ottawa & Chair, Dept. of Genetics, Children’s Hospital of Eastern Ontario
PATIENT ADVOCACY GROUPS

Pamela K. Gavin

CEO, National Organization for Rare Disorders
RESEARCH HOSPITALS

Roberto Giugliani

Professor, Department of Genetics, Federal University of Rio Grande do Sul
RESEARCH HOSPITALS

Alexandra Heumber Perry

Chief Executive Officer, Rare Diseases International
PATIENT ADVOCACY GROUPS

Kevin Huang

Founder and President, Chinese Organization for Rare Disorders
RESEARCH HOSPITALS

Derralynn Hughes

Professor of Experimental Haematology, University College London & Clinical Director of Research and Innovation, Royal Free London
PATIENT ADVOCACY GROUPS

Maryam Matar

Founder & Chairperson, UAE Genetic Diseases Association
RESEARCH HOSPITALS

Dau-Ming Niu

Chairman, Dept. of Pediatrics and Director, Medical Genetics Center, Taipei Veterans General Hospital
LEADING ACADEMIC/RESEARCH INSTITUTIONS

Anne O’Donnell-Luria

Assistant Professor in Pediatrics, Harvard Medical School & Co-Director, Center for Mendelian Genomics, Broad Institute
RESEARCH HOSPITALS

Carmencita Padilla

Emeritus Professor, College of Medicine, University of the Philippines, Manila
PATIENT ADVOCACY GROUPS

Mike Porath

Founder and CEO, The Mighty & Board Member, Dup15q Alliance
RESEARCH HOSPITALS

Marshall Summar

CEO, Uncommon Cures, LLC
LEADING ACADEMIC/RESEARCH INSTITUTIONS

Samuel Wiafe

Executive Director, Rare Disease Ghana Initiative & Clinical Psychologist, Ghana Health Service
RESEARCH HOSPITALS

Durhane Wong-Rieger

Chair, Rare Diseases International & President and CEO, Canadian Organization for Rare Disorders