Table of Contents
- Working Group on MedTech for Rare Diseases (upcoming)
- Enabling and Enhancing Telehealth for Rare Diseases Across the Globe (upcoming)
- Primary Care (upcoming)
- Integrating New Technologies for the Diagnosis of Rare Disease (ongoing)
- Shared Molecular Etiologies Underlying Multiple Rare Diseases (ongoing)
- Sustainable Economic Models in Drug Repurposing (ongoing)
- Chrysalis Project (ongoing)
- Rare Disease Treatment Access Working Group (ongoing)
- Clinical Research Networks for Rare Diseases (completed)
- Indigenous Population (ongoing)
- Working Group on Goal 3 (completed)
- Orphan Drug Development Guidebook (completed)
- Model Consent Clauses for Rare Disease Research (completed)
- Solving the Unsolved (completed)
- Privacy-Preserving Record Linkage (completed)
- Data Mining and Repurposing (completed)
- Small Population Clinical Trials (completed)
- Patient-Centered Outcome Measures (completed)
- Automatable Discovery and Access (completed)
- Matchmaker Exchange (completed)
- International Consortium of Human Phenotype Terminologies (completed)
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
Working Group on MedTech for Rare Diseases (upcoming)
This Working Group aims to create a better understanding and enhanced awareness of device developer’s needs, the standardized outcomes to define user needs for devices, and to offer a groundwork for developing solutions to improve the landscape of MedTech use for rare disease patients
This Task Force aims to conduct a survey and systematic review of existing telehealth models, identify barriers and opportunities of its use, and develop best practices for introducing telehealth services into communities.
Primary Care (upcoming)
This Task Force aims to bring together representatives from different stakeholders required to identify the priority research areas, challenges, and opportunities in rare diseases research in primary care.
This Task Force aims to identify new technologies in development or in experimental use that are likely to increase the diagnostic rate for rare disease patients, identify opportunities to enable its clinical adoption, and develop a clinical framework/guideline for implementing a combined diagnostic approach metabolomics/genomic/AI.
Expanding patient access to rare disease clinical trials by focusing on shared molecular etiologies underlying multiple rare diseases.
The main aim of the project is to identify key take-aways and potential recommendations to the rare diseases community regarding the suitability and key recurring elements on sustainable economic models for development and commercialization of orphan drugs.
Chrysalis Project (ongoing)
The goal of this project is to identify key criteria that would make rare diseases research more attractive to industry for research and development.
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 (completed)
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.
Indigenous Population (ongoing)
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 (completed)
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 (completed)
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 (completed)
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 (completed)
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 (completed)
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 (completed)
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 (completed)
Collaborative effort on adaptive design, statistical methods and acceptability of new methods in small population clinical trials.
Patient-Centered Outcome Measures (completed)
The development and adoption of patient-centered outcome measures are instrumental in accelerating research and development in rare diseases.
Automatable Discovery and Access (completed)
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.
Matchmaker Exchange (completed)
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.