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

• Rare Disease Moonshot, a public-private partnership that aims to accelerate breakthroughs in rare and
[7]
pediatric diseases .
• Rare Diseases International is a global alliance of rare disease patient organizations, advocating for
international cooperation on rare diseases. It works closely with the UN and WHO to bring global
awareness to rare disease challenges .
[8,9]
• International Collaboration on Rare Diseases and Orphan Drugs (ICORD) brings together international
stakeholders to promote collaboration in rare diseases research and orphan drug development in all regions
[10]
of the world .
• Clinical Research Networks, virtual networks collecting healthcare providers to tackle complex rare
[11]
diseases that require highly specialized treatment and concentrated knowledge .

DISCUSSION
Until a few decades ago, rare diseases were considered a niche area of interest, under-researched and under-
delivering for patients who struggle to get a timely diagnosis and access to therapies they desperately need.
This special edition has demonstrated the increasing sophistication of the field, evolving from a nascent
discipline to a well-organized, globally connected ecosystem that is delivering results. These organizations
and others are critical in driving forward progress for people living with rare diseases, by raising awareness,
influencing policy and strategy, promoting research, and ensuring people with rare diseases get the support
and care they need globally.

Rare diseases organizations collaborate in different formats and structures. However, we expect that in the
next decade, there will be an increasing focus on collaboration, particularly in low- and middle-income
countries, which are disproportionately impacted and affected by rare diseases. Furthermore, we hope to see
collaboration in the development of innovative and sustainable funding models, including enhancing
Public-Private Initiatives, allowing for improvements in the development of therapies, access, and care on a
global scale. A consistent consideration (and out of necessity) is the need to have an international global
influential outlook while recognizing local and regional specific issues. Available resources are scarce, and
duplication and replication should be avoided through worldwide collaboration at a global scale.

Based on these initiatives, the future is increasingly brighter for rare disease research and patient outcomes,
but with the need to recognize new challenges and opportunities, such as the evolving definition of what it
means to be rare in the era of personalized medicine, the tantalizing utility of platform technologies and
novel trial designs, and the need to engage meaningfully with the patient community at all levels. These
papers clearly highlight the opportunities for strengthened collaborations, and we must work together to
further enhance the network and connectivity of these organizations, maximizing the potential of 21st-
century technology.

DECLARATIONS
Authors’ contributions
Contributed equally to the article: Jonker AH, O’Connor DJ

Availability of data and materials
Not applicable.