Table of Contents
- Clinical Research Networks for Rare Diseases
- Indigenous Population
- Automatable Discovery and Access
- Data Mining and Repurposing
- Identification of barriers to patient participation in RD research and recommendations to remove them via multi-stakeholder survey
- International Consortium of Human Phenotype Terminologies
- Matchmaker Exchange
- Model Consent Clauses for Rare Disease Research
- Orphan Drug Development Guidebook
- Patient-Centered Outcome Measures
- Privacy-Preserving Record Linkage
- Small Population Clinical Trials
- Solving the Unsolved
The 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
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.
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.
This effort gathers expertise and identifies opportunities for collaborations to efficiently exploit data mining tools to identify new therapeutic targets and to repurpose drugs.
Identification of barriers to patient participation in RD research and recommendations to remove them via multi-stakeholder survey
To set up a scan of barriers to and recommendations for patient participation in RD research, by leveraging IRDiRC’s stakeholder and geographical representation.
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.
The joint IRDiRC-Global Alliance Matchmaker Exchange project aims at providing data sharing tools to match unsolved genome/exome sequence cases.
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.
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.
The development and adoption of patient-centered outcome measures are instrumental in accelerating research and development in rare diseases.
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.
Collaborative effort on adaptive design, statistical methods and acceptability of new methods in small population clinical trials.
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.