Table of Contents
- Chrysalis Project
- Integrating New Technologies for the Diagnosis of Rare Disease
- Shared Molecular Etiologies
- Rare Disease Treatment Access Working Group
- Clinical Research Networks for Rare Diseases
- Indigenous Population
- Identification of barriers to patient participation in RD research and recommendations to remove them
- Orphan Drug Development Guidebook
- Model Consent Clauses for Rare Disease Research
- Solving the Unsolved
- Privacy-Preserving Record Linkage
- Data Mining and Repurposing
- Small Population Clinical Trials
- Patient-Centered Outcome Measures
- Automatable Discovery and Access
- Matchmaker Exchange
- International Consortium of Human Phenotype Terminologies
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
The goal of this project is to identify key criteria that would make rare diseases research more attractive to industry for research and development.
Identification of new technologies in development or in experimental use which are likely to increase the diagnostic rate for patients with rare diseases, and to identify opportunities to enable the safe, widespread clinical adoption of the most elective technologies in a meaningful timeline.
Expanding patient access to rare disease clinical trials by focusing on shared molecular etiologies underlying multiple rare diseases.
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.
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.
Identification of barriers to patient participation in RD research and recommendations to remove them
To set up a scan of barriers to and recommendations for patient participation in rare disease research, by leveraging IRDiRC’s stakeholder and geographical representation.
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.
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.
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.
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.
This effort gathers expertise and identifies opportunities for collaborations to efficiently exploit data mining tools to identify new therapeutic targets and to repurpose drugs.
Collaborative effort on adaptive design, statistical methods and acceptability of new methods in small population clinical trials.
The development and adoption of patient-centered outcome measures are instrumental in accelerating research and development in rare diseases.
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.
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.