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Page 2 of 4 Jonker et al. Rare Dis Orphan Drugs J 2024;3:28 https://dx.doi.org/10.20517/rdodj.2024.29

The paper by Chan et al. describes the work of the International Rare Disease Research Consortium
(IRDiRC), a global consortium of stakeholders that aims to tackle key issues in diagnostics, therapeutics,
[1]
and patient outcomes . At its center is a global platform of collaborative effort and cross-discipline
exchange of ideas that can address three strategic goals through dedicated Task Forces and Working
Groups.

Mimouni et al. highlight the integration of over 130 institutions from 35 countries through the European
Joint Programme on Rare Diseases (EJP RD) . EJP RD collaborates to optimize the use of resources,
[2]
avoiding duplication and streamlining the process from basic research to clinical application. A key strategy
in achieving this is fostering collaboration among stakeholders while promoting enhanced research, policy
alignment, and sharing of infrastructure and knowledge.

[3]
Brooks et al. describe the approach of the (US National Institutes of Health) . The paper details a wide
variety of activities, including a rare disease day, information center, toolkit for patient-focused therapy
development, clinical research network, and cutting-edge methodological work such as promoting the use
of shared molecular etiology basket trials.

Cavaller-Bellaubi et al. describe EURORDIS-Rare Diseases Europe, an alliance of patient organizations in
Europe, advocating for the needs of people with rare diseases by influencing policy, healthcare, research,
and access to medicines across Europe and globally . The paper describes how it empowers people living
[4]
with a rare disease on different levels, such as training, fostering global collaboration, and supporting
international initiatives. However, of most interest is how it influences global policy in terms of setting and
executing its strategic goals, aligning with the United Nations Sustainable Development Goals and the
European Action Plan for Rare Diseases.

[5]
Jain et al. show the many paradoxes of rare diseases in the Asia Pacific region . Being the world’s most
populated region, it brings with it the highest number of people with rare diseases, but also a mix of
cultures, languages, healthcare systems, populations, and economic backgrounds. They describe how
APARDO (Asia Pacific Alliance of Rare Disease Organizations) aims, in this environment, to foster
connectivity and work toward a more equitable world for people with rare diseases.

The organization Enfermedas Raras en el Caribe y America Latina (ERCAL) also connects to this theme in
the paper by Gonzaga-Jaurequi et al. This newer entity was established in 2020 to address the challenges of
[6]
patients with rare diseases in Latin America and the Caribbean under a collaborative platform . Despite
global recognition of the importance of such programs, many low- and middle-income countries in the
region are still lagging in meeting the needs of these patients and their families. Over the past three years,
ERCAL has worked to create a priority agenda to guide efforts and improve the lives of the rare disease
community in the region.

As described, this special edition covers 6 exemplary organizations, but there are many other world leading
and notable initiatives such as:

• N = 1 Collaborative, a consortium that aims to develop customized therapies for patients with unique
genetic mutations worldwide .
[6]