Table of Contents
A number of actionable key areas has been identified by IRDiRC Scientific Committees to advance IRDiRC’s three main objectives for the rare disease community:
- All patients coming to medical attention with a suspected rare disease will be diagnosed within one year if their disorder is known in the medical literature; all currently undiagnosable individuals will enter a globally coordinated diagnostic and research pipeline
- 1000 new therapies for rare diseases will be approved, the majority of which will focus on diseases without approved options.
- Methodologies will be developed to assess the impact of diagnoses and therapies on rare disease patient
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.
Gathering of international policy researchers in rare diseases to address specific consent needs, present actual consent clauses used by IRDiRC members, and develop a series of model consent clauses for rare disease researchers based on robust bioethical and legal approaches.
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.