Table 1 Overview of large consortia/initiatives for rare diseases
Consortia/initiatives | Description | Data availability | URL | Accession number | References |
|---|---|---|---|---|---|
Global scale | |||||
European Joint Programme on Rare Disease (EJP RD) | Europe-wide initiative with the aim of improving diagnosis and treatment of rare diseases | Data available within the website | None | [24] | |
International Rare Diseases Research Consortium (IRDiRC) | Global Consortium that coordinates research efforts to develop 1000 new therapies for rare diseases by 2027 | Data available within the website | None | [25] | |
National Organization for Rare Disorders (NORD) | Advocacy organization in the USA that provides support for patients and advocates for rare disease research | Data available on request from the team | None | [26] | |
Rare Disease Clinical Research Network (RDCRN) | International collaboration designed to develop medical research on rare diseases with increased support for clinical studies | Data available on request from the team | https://www.rarediseasesnetwork.org/research/data-sharing-and-standards/data-sharing-resources | None | [27] |
Undiagnosed Diseases Network International (UDNI) | Global network focused on enhancing the understanding of diagnosis of previously undiagnosed diseases | Data not publicly available | None | None | [28] |
National scale | |||||
Canadian Organization for Rare Disorders (CORD) | Advocacy organization in Canada focused on reinforcing public policy and support for the well-being of patients with rare diseases | Data not publicly available | None | None | [29] |
CIHR Rare Disease Research Initiative | Canadian program under the Canadian Institutes of Health Research found to increase collaboration across the rare disease community | Data not publicly available | None | None | [30] |
Initiative on Rare and Undiagnosed Diseases in Japan | National program in Japan dedicated to advancing research and healthcare strategies for rare diseases | Data not publicly available | None | None | [31] |
Korean Undiagnosed Diseases Program (KUDP) | National program in South Korea aimed at diagnosing undiagnosed patients and building long-term research infrastructure | Data available on request from the authors | None | None | [32] |