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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.
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