In rare disease research, data are scattered and the number of patients is often small, making critical the need for collaboration. The IRDiRC Policies and Guidelines were set out to address best practices in term of data/expertise sharing, integration, use of resources in rare diseases research. A change in how science is performed in addition to the involvement of all stakeholders (scientists, clinicians, patients, industries, regulators) is key to achieve efficient international collaboration.
One of the efforts to widely disseminate these guiding principles was achieved through a publication in the European Journal of Human Genetics. The Policies and Guidelines, ratified by IRDiRC members for implementation in their rare diseases research program, are structured around 11 major topics: data sharing/standards, ontologies, diagnostics, biomarkers, patient registries, biobanks, natural history, therapeutics, model systems, publication/intellectual property and communication. In addition to developing new initiatives based on these principles, IRDiRC will also continue its efforts in further disseminating the Policies and Guidelines as well as assessing their impact to update them when required.