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Page 2 of 8 Chan et al. Rare Dis Orphan Drugs J 2023;2:28 https://dx.doi.org/10.20517/rdodj.2023.23

INTRODUCTION
While each rare disease may individually impact only a small number of people, collectively, there are over
[3]
[1,2]
10,000 different rare conditions affecting more than 300 million individuals worldwide ; rare diseases
(RDs) pose a major challenge in healthcare. The vast number of RDs and relatively small patient population
creates substantial barriers in both scientific knowledge and clinical expertise, which, in turn, negatively
impacts the availability of diagnoses and treatments, patient outcomes, and overall quality of life.

Biomedical research is the basis for all new diagnostic or therapeutic development, yet a vast disparity exists
when it comes to research in RDs compared to more common diseases. With the cost of developing a new
therapy estimated at over US $1 billion , there is often little incentive to focus on RDs with limited market
[4]
potential. Although the orphan drug market has experienced rapid growth in recent years, it remains to be
seen whether this trend can continue. While the US Orphan Drug Act (1983) and the European Union’s
regulation on Orphan Medicinal Products (2000) have gone some way towards providing incentives to
develop treatments for RDs, much work is still needed to tackle the health disparities often faced by patients
with a rare disorder.

To help address these issues, the European Commission (EU) and the US National Institutes of Health
(NIH) launched the International Rare Disease Research Consortium (IRDiRC) in 2011 to bring together a
global multi-stakeholder leadership consortium of research funders, patient advocacy groups, companies,
scientists and regulatory experts to maximize the output of rare disease research. IRDiRC was originally
conceived with two main goals: to contribute to the development of 200 new therapies and the means to
diagnose most rare diseases by 2020. While it is difficult to measure the direct contribution of IRDiRC,
collaborative approaches and consolidation of research activities by IRDIRC members have likely played a
substantial role in achieving these goals. Notably, the Consortium’s activities contributed to reaching the
target of delivering 200 new therapies 3 years ahead of schedule in 2017. Furthermore, considerable progress
was also made to improve the availability of diagnostics. To capitalize on this early success, IRDiRC
embraced a bold new vision to enable all people with a rare disease to receive an accurate diagnosis, care, and
available therapy within one year of coming to medical attention. With this renewed focus, IRDiRC set three
new ambitious goals for the next decade (2017-2027): (1) All patients coming to medical attention with a
suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature;
all currently undiagnosable individuals will enter a globally coordinated diagnostic and research pipeline;
(2) 1,000 new therapies for rare diseases will be approved, the majority of which will focus on diseases
without approved options; (3) Methodologies will be developed to assess the impact of diagnoses and
therapies on rare disease patients .
[5,6]

A global community
Recognizing that rare diseases are a global challenge, IRDiRC has made significant efforts to seek members
from across the world. Over the twelve years since its foundation, IRDiRC has expanded its initial
membership of 21 organizations to 60, with representatives from Asia, Africa, Europe, North America,
South America, and Australia. One unique aspect of IRDiRC is the diversity of the stakeholders who
participate, encompassing representatives from funding bodies, both public and private, industries such as
pharmaceutical companies, device manufacturers and diagnostics, and patient advocate organizations.
Thus, IRDiRC provides a forum where stakeholders with unique perspectives on different parts of a
patient’s journey can convene and address the significant obstacles hindering the diagnosis and treatment of
RDs.