Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective

The International Rare Diseases Research Consortium (IRDiRC) was founded in 2011 with the conviction that rare diseases research had reached a critical juncture. Proof of principle existed that rare diseases could be diagnosed, new treatments successfully developed and approved, and improvements in quality and quantity of life achieved. Government research funders, companies, scientists, and patient advocacy groups had all demonstrated their commitment and effectiveness in contributing to progress in rare diseases research. However, the work was largely atomized, with each organization, each country, and the champions of each disease pursuing independent, often duplicative solutions. The scale of the "rare disease problem"-thousands of rare diseases, the vast preponderance of them with no approved treatment, and decades-long diagnostic odysseys for many patients-led to the realization that the time had arrived for global cooperation and collaboration among the many stakeholders active in rare diseases research, to capitalize on these proofs of principle, and maximize the output of rare diseases research efforts around the world. IRDiRC's initial aims were to aid in the achievement of two overarching objectives: to contribute to the development of 200 new therapies and the means to diagnose most rare diseases by the year 2020. 1 For more detailed information on the history, governance, and nascent stages of the Consortium, please refer to the accompanying piece on the first 6 years of IRDiRC.