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) | Sanford School of Medicine of the University of South Dakota |
| France | ITALFARMACO |  | Samantha Parker (Vice Chair) | Patient Advocacy and Communication Lead Rare Disease Europe |
| USA | National Institute of Neurological Disorders and Stroke (NINDS) part of U.S. National Institutes of Health (NIH) |  | Adam Hartman | Program Director |
| China | Hope for Rare Foundation |  | Boya Yu | Project Manager |
| USA | Illumina, Inc. |  | Adriana Huertas-Vazquez | Senior Director, Global Medical Affairs |
| USA | Global Genes |  | Charlene Son Rigby | CEO |
| Canada | Canadian Institutes of Health Research (CIHR) |  | Christopher McMaster | Professor, Scientific Director |
| France | Foundation for Rare Diseases |  | Daniel Scherman | Director |
| USA | Nicklaus Children's Hopital | David Seo | Senior Vice President | |
| USA | Orphan Disease Center |  | Deborah Requesens | Director, JumpStart Program Orphan Disease Center, University of Pennsylvania |
| USA | Pfizer | Denis Keohane | VP Global Global Medical Affairs in Rare Disease | |
| 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 | APARDO |  | Durhane Wong-Riegler | President |
| Botswana | Botswana Organization for Rare Diseases (BORDIS) |  | Eda Selebatso | Founder & Chairperson |
| France | National Institute of Health and Medical Research (INSERM) | Emmanuelle Genin | Director of Inserm Thematic Institute Genetics, Genomics & Bioinformatics | |
| Belgium | UCB |  | Estelle Michael | Policy and Public Affairs Lead |
| Spain | Instituto de Salud Carlos III (ISCIII) |  | Eva Bermejo-Sánchez | Director |
| 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 |
| Sweden | Wilhelm Foundation |  | Helene Cederroth | Founder |
| Belgium | European Commission |  | Irene Norstedt | Director - People Directorate |
| 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 |
| USA | Recursion Pharmaceuticals, Inc | Jeanene Fogli | Head of Patient Advocacy and External Collaboration | |
| South Korea | Korea Disease Control and Prevention Agency | Jee young Kim | Director for Rare Disease Management, Department of Chronic Disease Prevention and Control | |
| Canada | Canadian Organization for Rare Disorders |  | Jida El Hajjar | Board member |
| Peru | Iberoamerican Alliance for Rare Diseases (ALIBER) |  | Karla Ruiz de Castilla | Secretary of ALIBER and President of ESPERANTRA |
| USA | Food and Drug Administration, Office of Orphan Products Development (FDA/OOPD) |  | Katherine Needleman | Director, Orphan Products Grants Program FDA/OOPD |
| Canada | Rare Diseases International |  | Kelly Du Plessis | Member |
| 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 | Congressionally Directed Medical Research Programs (part of USAMRDC) |  | Kristy Lidie | Deputy Director for Program Management |
| USA | Biogen |  | Lewis Raynor | Director Epidemiology |
| Belgium | European Federation of Pharmaceutical Industries and Associations (EFPIA) |  | Magda Chlebus | Executive Director Science Policy and Regulatory Affairs |
| Rwanda | Centre-Alliance for Rare Disease in Rwanda |  | Manzi Ndamukunze | Consultant |
| France | French Muscular Dystrophy Association, AFM-Téléthon |  | Marie-Christine Ouillade | AFM Board of Directors, AFM International Committee |
| Switzerland | Ultragenyx | Marta Valente | Vice President Head Medical Affairs Europe | |
| 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 |
| USA | Takeda Pharmaceuticals |  | Neta Zach | Head of Neuromuscular Disease Area Unit |
| Australia | Rare Voices Australia |  | Nicole Millis | Executive Officer |
| China | Beijing Genomics Institute (BGI) |  | Ning Li | Director |
| South Africa | Rare Diseases South Africa |  | Nomsa Mtshali | Patient Coordinator |
| 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 |
| Peru | Federación Peruana de Enfermedades Raras |  | Pilar Estremadoyro Reyes | Vice-President |
| 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 |
| Ghana | Rare Disease Ghana Initiative (RDGI) |  | Samuel Agyei Wiafe | Founder/Executive Director |
| Canada | Genome Canada |  | Sapna Mahajan | Director, Research and Innovation |
| USA | Genetic Alliance |  | Sharon Terry | President and CEO of Genetic Alliance, President of EspeRare |
| 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 |
| Canada | GlobalSkin |  | Tammi Shipowick | Program Director |
| Belgium | Sanofi |  | Vinciane Pirard | Lead Scientific Advocacy and Insights - Global Medical Affairs Rare Diseases |
| Europe | EURORDIS - Rare Diseases Europe |  | Virginie Hivert | Therapeutic Development Director |
| 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 |
| USA | Alexion AstraZeneca Rare Disease |  | Wendy Erler | Vice President of Patient Experience, STAR and Advocacy |
| China | National Rare Diseases Registry System (NRDRS) |  | Zhang Shuyang | President |
| Switzerland | Roche | Waiting for the nomination of new representative | ||
| USA | National Human Genome Research Institute (NHGRI) part of U.S. National Institutes of Health (NIH) | Waiting for nomination of 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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