In much of rare diseases research, efforts are compartmentalized, data are scattered, and the number of patients is often small, making the need for collaboration critical to enable progress toward better diagnoses and therapies for rare disease patients. The IRDiRC Policies and Guidelines, agreed to by members in April 2013, were set out to emphasize collaboration in rare disease research, involvement of patients and their representatives in all relevant aspects of research, as well as the sharing of data and resources.
The Policies and Guidelines, ratified by IRDiRC members for implementation in their respective rare diseases research programs, are structured around 11 major topics: data sharing and standards, ontologies, diagnostics, biomarkers, patient registries, biobanks, natural histories, therapeutics, model systems, publication and intellectual property, and communications. IRDiRC will continue its efforts to disseminate the Policies and Guidelines as best practices in international rare diseases research, assess their impact, and update them, as needed.
Improving methodologies of research in addition to involving all relevant stakeholders (e.g., scientists, clinicians, patients, companies, regulators) is essential to achieving efficient and effective international rare disease collaborations. Rare disease research has made considerable progress, and the Policies and Guidelines will further push the discovery progress of rare disease diagnosis and treatment, thereby advancing this important field of research.
- IRDiRC Policies and Guidelines, abridged version, April 2013
- IRDiRC Policies and Guidelines, extended version, April 2013
- The International Rare Diseases Research Consortium: policies and guidelines to maximize impact
Hanns Lochmüller, Josep Torrent i Farnell, Yann Le Cam, et al.
European Journal of Human Genetics, November 2017, doi: 10.1038/s41431-017-0008-z, abstract
FDA disclaimer: FDA participates as a member of IRDiRC’s committees as a part of the Agency’s efforts to advance the evaluation and development of products (drugs, biologics, devices, or medical foods) including those for the diagnosis and/or treatment of rare diseases or conditions. FDA’s membership in IRDiRC should not be construed as an endorsement of IRDiRC’s specific policies, activities, or products.