Capitalizing on the momentum of progress made in rare diseases research over the past six years, the International Rare Diseases Research Consortium (IRDiRC) devised a new set of global rare disease goals for the upcoming decade. In August 2017, IRDiRC raised the bar for all stakeholders working on rare diseases, as the Consortium presented its audacious vision for the field, all with patients’ lives in mind:
Enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.
In order to work towards this ambitious vision, IRDiRC has set three goals for the next decade:
- Goal 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
- Goal 2: 1000 new therapies for rare diseases will be approved, the majority of which will focus on diseases without approved options.
- Goal 3: Methodologies will be developed to assess the impact of diagnoses and therapies on rare disease patients
To tackle these goals, following extensive and collective discussion and prioritization, the Consortium defined its new roadmap for 2018 which includes actions to accelerate research and development in rare diseases, and to remove numerous barriers and bottlenecks. These actions are aimed at improving research funding and coordination, identifying strategies to diagnose unsolved cases, facilitating data collection and sharing, advancing therapy development, boosting patient engagement in research and enabling international collaborations. IRDiRC Committees and Task Forces will deliver a series of recommendations for policies and standards, tools and infrastructure development, and adoption of best practices in response to the needs of the rare disease community.