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	https://resourcemap.ejprarediseases.org/	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	https://irdirc.org/resources-2/irdirc-recognized-resources/	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	https://rarediseases.org/resource-library/	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]