IRDiRC members include:
- Funding organizations (i.e., public and private funding bodies, groups of funders) investing more than 10 million USD over 5 years in rare disease research
- Companies (i.e., Biotech, Pharma, MedTech, etc) investing more than 10 million USD over 5 years in rare disease research
- Umbrella patient advocacy organizations representing broad patients’ interests for all rare diseases in at least one country or larger area
| Country | Organization | Representative | Title | |
|---|---|---|---|---|
| USA | Sanford Research |  | David Pearce (Chair) | President of Innovation, Research & World Clinic |
| France | InnoSkel |  | Samantha Parker (Vice Chair) | Chief Patient Access Officer |
| USA | National Institute of Neurological Disorders and Stroke (NINDS) part of U.S. National Institutes of Health (NIH) |  | Adam Hartman | Program Director |
| USA | Illumina, Inc. |  | Adriana Huertas-Vazquez | Senior Director, Global Medical Affairs |
| USA | Sanofi Genzyme |  | Alaa Hamed | Global Head of Medical Affairs Rare Diseases |
| France | National Institute of Health and Medical Research (INSERM) |  | Catherine Nguyen | Director of the Thematic Institute of the Genetics, Genomics and Bioinformatics |
| USA | Recursion Pharmaceuticals, Inc |  | Chris Gibson | CEO & Co-Founder |
| Canada | Canadian Institutes of Health Research (CIHR) |  | Christopher McMaster | Professor, Scientific Director |
| UK | Loulou Foundation |  | Daniel Lavery | Chief Scientific Officer |
| France | Foundation for Rare Diseases |  | Daniel Scherman | Director |
| Italy | Chiesi Farmaceutici S.p.A. |  | Diego Ardigò | Head of Global Rare Diseases Research and Development |
| Italy | Istituto Superiore di Sanità (ISS) |  | Domenica Taruscio | Director |
| Canada | Rare Diseases International (RDI) |  | Durhane Wong-Rieger | Chair of the RDI Council |
| Botswana | Botswana Organization for Rare Diseases (BORDIS) |  | Eda Selebatso | Founder & Chairperson |
| USA | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) part of U.S. National Institutes of Health (NIH) |  | Faye H. Chen | Program Director, Rare Diseases and Integrated Physiology of Bone Program |
| Switzerland | Ultragenyx Pharmaceutical Inc. |  | Grania Crowley | Head of EU Patient Advocacy and Public Affairs |
| Belgium | European Commission |  | Irene Norstedt | Director - People Directorate |
| Canada | Genome Canada |  | Ivana Cecic | Director, Corporate Development (Health Portfolio) |
| South Korea | Korea Disease Control and Prevention Agency | Jiwon M. Lee | Director, Division of Rare Disease Management, Bureau of Chronic Disease Management | |
| USA | National Institute of Dental and Craniofacial Research (NIDCR) part of U.S. National Institutes of Health (NIH) |  | Jason Wan | Director, Mineralized Tissue Physiology Program Integrative Biology and Infectious Diseases Branch |
| Peru | Iberoamerican Alliance for Rare Diseases (ALIBER) |  | Karla Ruiz de Castilla | Secretary of ALIBER and President of ESPERANTRA |
| USA | Pfizer |  | Katherine Beaverson | Executive Director, Head of Patient Advocacy and External Engagement, Rare Disease Research Unit |
| USA | Food and Drug Administration, Office of Orphan Products Development (FDA/OOPD) |  | Katherine Needleman | Director, Orphan Products Grants Program FDA/OOPD |
| South Africa | Rare Diseases South Africa |  | Kelly du Plessis | CEO & Founder |
| China | Chinese Organization for Rare Disorders (CORD) |  | Kevin Huang | Founder & President |
| Australia | Western Australian Department of Health |  | Kristen Nowak | Director, Office of Population Health Genomics; Western Australia Department of Health |
| USA | National Human Genome Research Institute (NHGRI) part of U.S. National Institutes of Health (NIH) |  | Lisa Chadwick | Program Director, Division of Genome Sciences |
| USA | Takeda Pharmaceuticals |  | Madhu Natarajan | Head, Rare Diseases DDU Research |
| Spain | Instituto de Salud Carlos III (ISCIII) |  | Manuel Posada | Director at Research Institute for Rare Diseases (IIER) |
| USA | Global Genes |  | Maria Della Roca | Sr. Director of Patient Services |
| France | French Muscular Dystrophy Association, AFM-Téléthon |  | Marie-Christine Ouillade | AFM Board of Directors, AFM International Committee |
| France | Lysogene |  | Marie Trad | Chief Medical Officer |
| USA | National Institute of Child Health and Human Development (NICHD) part of U.S. National Institutes of Health (NIH) |  | Melissa Parisi | Chief of Intellectual and Developmental Disabilities Branch |
| Australia | Rare Voices Australia |  | Nicole Millis | Executive Officer |
| China | Beijing Genomics Institute (BGI) |  | Ning Li | Director |
| Georgia | Georgian Foundation for Genetic and Rare Diseases (GeRaD) |  | Oleg Kvlividze | CEO |
| USA | National Organization for Rare Disorders (NORD) |  | Pamela Gavin | Executive Vice President |
| France | Agence Nationale de la Recherche (ANR) |  | Philippe Bouvet | Head of Biology & Health Department |
| USA | Office of Rare Diseases Research, National Center for Advancing Translational Sciences (NCATS) part of U.S. National Institutes of Health (NIH) |  | Philip J. (PJ) Brooks | Director |
| India | Organization for Rare Diseases India (ORDI) |  | Prasanna Kumar Shirol | Founder, Director Board |
| Germany | Federal Ministry of Education and Research (BMBF) |  | Ralph Schuster | Scientific Officer |
| India | Indian Organization for Rare Diseases (IORD) |  | Ramaiah Muthyala | President and CEO |
| USA | Chan Zuckerberg Initiative |  | Raquel Peck | International Strategist, Rare As One Project |
| Singapore | APARDO |  | Ritu Jain | President |
| Ghana | Rare Disease Ghana Initiative (RDGI) |  | Samuel Agyei Wiafe | Founder/Executive Director |
| USA | National Cancer Institute (NCI) part of U.S. National Institutes of Health (NIH) | Satish Gopal | Director, Center for Global Health | |
| USA | Genetic Alliance |  | Sharon Terry | President and CEO of Genetic Alliance, President of EspeRare |
| USA | National Eye Institute (NEI) part of U.S. National Institutes of Health (NIH) |  | Shefa Gordon | Associate Director, Office of Program Planning and Analysis (OPPA) |
| Netherlands | The Netherlands Organisation for Health Research and Development (ZonMw) |  | Sonja van Weely | Scientific Officer, Sounding Board Group National Plan Rare Diseases |
| Italy | Telethon Foundation |  | Stefano Benvenuti | Head of Public Affairs |
| Europe | EURORDIS - Rare Diseases Europe |  | Virginie Hivert | Therapeutic Development Director |
| UK | National Institute for Health Research (NIHR) |  | Willem Ouwehand | Professor of Experimental Hematology University of Cambridge |
| Japan | Japan Agency for Medical Research and Development (AMED) |  | Susumu Kusunoki | Program Supervisor |
| Japan | Advocacy Service for Rare and Intractable Diseases’ multi-stakeholders in Japan (ASrid) |  | Yukiko Nishimura | President |
| China | National Rare Diseases Registry System of China (NRDRS) |  | Zhang Shuyang | Chair |
| Switzerland | Roche | Waiting for the nomination of the new representative |
For information on becoming an IRDiRC member thus represented in the Consortium Assembly and Constituent Committees (see section here), please consult the Become a Funding Member or the Become an Umbrella Patient Advocacy Member.
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