Current Activities

IRDiRC organizes a number of activities, about which information can be found on this page sequentially. Firstly, IRDiRC’s consortium assembly and scientific committees meet regularly and their meeting reports are available online for consultation. Secondly, IRDiRC policies and guidelines refer to the principles that the IRDiRC members agree to follow as well as the recommendations from the Scientific Committees. Thirdly, active members of IRDiRC with specific expertise are organized in Task Forces to push forward policy change in specific research areas selected as prioritized topics by the Consortium Assembly (information below). Fourthly, IRDiRC organizes scientific conferences and events and often presents information about the consortium on third-party conferences. This can be found on the conference page. Finally, in order to contribute to effective research on rare diseases, IRDiRC has created an ‘IRDiRC Recognized Resources’ label. This label recommends platforms, tools and guidelines of great interest to be used by researchers. All information about this new initiative can be found on its dedicated page.

Upcoming Workshops and Meetings

  • April 5, 2017 – Operating Committee – Monthly conference call

Task Forces

A number of actionable key areas has been identified by IRDiRC Scientific Committees to advance IRDiRC’s two main objectives for the rare disease community: have a therapy for 2OO new rare diseases and have a diagnostic test for most genetic diseases by 2020.

Ad hoc Task Forces are constituted to accelerate policy change in areas contributing to these goals. Task Forces identify actions likely to contribute to speeding up R&D and organize the debate among the relevant stakeholders to reach agreement and ensure appropriation of decisions.

      • International Consortium of Human Phenotype Terminologies

        The development and adoption of standards to be used to achieve interoperability between databases, in particular to allow the linking of phenotype and genotype databases for rare diseases.

      • Patient-Centered Outcome Measures

        The development and adoption of patient-centered outcome measures are instrumental in accelerating research and development in rare diseases.

      • Small Population Clinical Trials

        Collaborative effort on adaptive design, statistical methods and acceptability of new methods in small population clinical trials.

      • Matchmaker Exchange

        The joint IRDiRC-Global Alliance Matchmaker Exchange project aims at providing data sharing tools to match unsolved genome/exome sequence cases.

      • Automatable Discovery and Access

        In order to make the most of clinical data sources worldwide, accessing the level of patient consent towards data sharing and research participation becomes crucial.

      • Data Mining/Repurposing

        This effort gathers expertise and identifies opportunities for collaborations to efficiently exploit data mining tools to identify new therapeutic targets and to repurpose drugs.

      • Privacy-Preserving Record Linkage

        The joint IRDiRC-GA4GH Task Force aims to develop a guiding policy for the generation of participant-specific identifiers that enable data from the same individual to be connected across multiple projects without directly revealing the participant’s identity.


IRDiRC Recommendations

IRDiRC Policies and Guidelines refer to the principles that the IRDiRC members agree to follow as well as the recommendations from the Scientific Committees. This document can be access through this page.