IRDiRC members include:
- Funding organizations (i.e., funding bodies, groups of funders, companies) 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 Research, Director of Sanford Children's Health Research Center, Professor of Pediatrics |
| France | InnoSkel |  | Samantha Parker (Vice Chair) | Chief Patient Access Officer |
| USA | NIH / National Institute of Neurological Disorders and Stroke (NINDS) |  | Adam Hartman | Program Director |
| USA | Sanofi Genzyme |  | Alaa Hamed | Global Head Sanofi Genzyme Rare Disease Medical Affairs, Sanofi Genzyme |
| Latin America | Iberoamerican Alliance for Rare Diseases (ALIBER) |  | Alba Ancochea | Advocacy Advisor |
| USA | NIH / National Center for Advancing Translational Sciences (NCATS) |  | Anne Pariser | Director at Office of Rare Diseases Research |
| France | National Institute of Health and Medical Research (INSERM) |  | Catherine Nguyen | Director of the Thematic Institute of the Genetics, Genomics and Bioinformatics at INSERM |
| USA | Recursion Pharmaceuticals, Inc |  | Chris Gibson | CEO & Co-Founder |
| USA | Global Genes | Maria Della Roca | Director of Patient Services | |
| UK | Congenica |  | Christina Waters | SVP, Global Genomic Insights and Solutions, Congenica |
| Canada | Canadian Institutes of Health Research (CIHR) |  | Christopher McMaster | Professor, Scientific Director |
| United Kingdom | Loulou Foundation |  | Daniel Lavery | Chief Scientific Officer |
| France | French Foundation for Rare Diseases |  | Daniel Scherman | President |
| Italy | Chiesi Farmaceutici |  | Diego Ardigò | Head of R&D, Global Rare Diseases, Chiesi Farmaceutici S.p.A., Italy |
| Italy | Istituto Superiore di Sanità (ISS) |  | Domenica Taruscio | Director |
| France | Agence nationale de la recherche (ANR) |  | Dominique Dunon-Bluteau | Director of Biology & Health department |
| International | Rare Diseases International (RDI) |  | Durhane Wong-Rieger | Chair of the RDI Council |
| Botswana | Botswana Organization for Rare Diseases (BORDIS) |  | Eda Selebasto | Founder & Chairperson |
| USA | NIH / National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) |  | Faye H. Chen | Program Director, Rare Diseases and Integrated Physiology of Bone Program |
| Europe | 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 | NIH / National Institute of Dental and Craniofacial Research (NIDCR) |  | Jason Wan | Director, Mineralized Tissue Physiology Program Integrative Biology and Infectious Diseases Branch |
| USA | Pfizer |  | Katherine Beaverson | Patient Advocacy Director, 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 | NIH / National Human Genome Research Institute (NHGRI) |  | Lisa Chadwick | Program Director, Division of Genome Sciences |
| USA | Takeda Pharmaceuticals |  | Madhu Natarajan | Head, Rare Diseases DDU Research, Takeda Pharmaceuticals |
| Spain | Instituto de Salud Carlos III (ISCIII) |  | Manuel Posada | Research Full Professor in Rare Diseases Epidemiology, Institute of Rare Diseases Research (IIER) |
| France | French Muscular Dystrophy Association, AFM-Téléthon |  | Marie-Christine Ouillade | AFM Board of Directors, AFM International Committee |
| Switzerland | Roche | Waiting for the nomination of the new representative | Head of Rare Disease Discovery | |
| USA | NIH / National Institute of Child Health and Human Development (NICHD) |  | Melissa Parisi | Chief of Intellectual and Developmental Disabilities Branch |
| Australia | Rare Voices Australia |  | Nicole Millis | Executive Officer |
| China | BGI |  | Ning Li | CEO, BGI Europe |
| Georgia | Georgian Foundation for Genetic and Rare Diseases (GeRaD) |  | Oleg Kvlividze | CEO |
| Canada | Canadian Organization for Rare Disorders (CORD) |  | Oxana Illiach | CORD Board Member |
| USA | National Organization for Rare Disorders (NORD) |  | Pamela Gavin | Executive Vice President |
| India | Organization for Rare Diseases India (ORDI) |  | Prasanna Kumar Shirol | Founder, Director Board |
| France | Lysogene |  | Ralph Laufer | Chief Scientific Officer |
| Germany | Federal Ministry of Education and Research (BMBF) |  | Ralph Schuster | Scientific Officer |
| India | Indian Organization for Rare Diseases (I-ORD) |  | Ramaiah Muthyala | President and CEO |
| USA | Chan Zuckerberg Initiative |  | Raquel Peck | International Strategist, Rare As One Project |
| Asia Pacific | APARDO |  | Ritu Jain | President of APARDO |
| Ghana | Rare Disease Ghana Initiative (RDGI) |  | Samuel Agyei Wiafe | Founder/Executive Director |
| USA | NIH / National Cancer Institute (NCI) | Satish Gopal | Director, Center for Global Health | |
| USA | Genetic Alliance |  | Sharon Terry | President and CEO of Genetic Alliance, President of EspeRare |
| USA | NIH/ National Eye Institute (NEI) | Shefa Gordon | Associate Director, Office of Program Planning and Analysis (OPPA) | |
| USA | Cydan |  | ShiYin Foo | Chief Medical Officer |
| 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 | Public Affairs Manager | |
| Switzerland | Ultragenyx |  | Tom Pulles | Head of Medical Affairs & Patient Advocacy |
| Europe | EURORDIS-Rare Diseases Europe |  | Virginie Hivert | Therapeutic Development Director |
| USA | illumina Inc. |  | Volker Liebenberg | Director Medical Affairs EMEA, Illumina Inc. |
| United Kingdom | National Institute for Health Research (NIHR) |  | Willem Ouwehand | Professor of Experimental Hematology University Cambridge |
| Japan | Japan Agency for Medical Research and Development (AMED) |  | Yoshinao Mishima | President of AMED |
| 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 |
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.
Related link: