The IRDiRC Task Forces are created to tackle specific topics within rare diseases research proposed by the Constituent and/or Scientific Committees and selected as prioritized actions by the Consortium Assembly and the Operating Committee.
Each Task Force reviews current barriers to efficient and effective rare disease research, and proposes solutions through policy recommendations and/or technical applications including platforms, tools, standards and guidelines.
Members of the Task Forces are nominated based on their expertise in the selected area and include key players of diverse backgrounds to ensure different perspectives are taken into consideration to drive innovation and new approaches.
The Task Forces may operate, on a time-limited mandate, either solely as IRDiRC initiatives or jointly with partner groups that wish to collaborate and address similar issues.
Objectives of the Task Forces
- Topics specific to rare diseases
- High leverage projects with strong translational potential and international scope
- Actions for international scope and relevance
- Projects that have not been covered by international initiatives
- Well targeted, actionable projects, with potential to produce results before 2027
- Clear objectives and timelines to improve participation and member motivation
- Coordination with other organizations to identify gaps and needs
- Alignment and harmonization of projects with other international initiatives
Rare Disease Treatment Access Working Group
Treatments are often unavailable for rare disease patients, especially in low-and-middle-income countries. This Working Group addresses the goal of leaving no one behind, requiring that access to treatments be available for rare disease patients.
Clinical Research Networks for Rare Diseases
Mapping and analysis of the existing ecosystem of national/supranational clinical research networks to develop policy recommendations on guiding principles for an international framework of collaboration of these networks.
Gathering the community to address barriers to the diagnosis of rare diseases for Indigenous peoples, so as to improve access to and utility of rare disease diagnostics in underserved populations.
Working Group on Goal 3
The IRDiRC Working Group on Goal 3 was established to identify what are the specific needs, metrics and tools for appropriate data collection and development of methodologies addressing the third goal of IRDiRC: Develop methodologies to assess the impact of diagnosis and therapies on rare disease patients.
Orphan Drug Development Guidebook
Creation of a simple guidebook for academic and industrial drug developers describing the available tools and initiatives specific for rare disease development and how to best use them.
Model Consent Clauses for Rare Disease Research
Gathering rare disease research policy experts to develop model consent clauses specific to rare diseases that are comprehensive, harmonized, readily-accessible, and internationally applicable, enabling the recruitment and consent of rare disease research participants around the world.
Solving the Unsolved
Identification of the genetic basis of rare conditions that are presently intractable to existing approaches based on exome sequencing requires development of innovative approaches for discovery.
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.
Data Mining and 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.
Small Population Clinical Trials
Collaborative effort on adaptive design, statistical methods and acceptability of new methods in small population clinical trials.
Patient-Centered Outcome Measures
The development and adoption of patient-centered outcome measures are instrumental in accelerating research and development in rare diseases.
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.
The joint IRDiRC-Global Alliance Matchmaker Exchange project aims at providing data sharing tools to match unsolved genome/exome sequence cases.
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.