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SUPPORT-IRDiRC is a 6-year period (October 1, 2012 – September 30, 2018) FP7 project. The total cost of this project is € 2 000 000.
The overall objective of SUPPORT-IRDiRC is to provide organizational and communication support to the International Rare Diseases Research Consortium (IRDiRC) and its various members and thereby contribute to the development of policies and guidelines aimed at accelerating research on rare diseases (RD) and at reinforcing international research cooperation.
SUPPORT-IRDiRC, hosted at the French Institute of Health and Medical Research (INSERM, US14), aims at providing the organizational support to the implementation of the IRDiRC in close collaboration with the European Commission, the NIH, research funding agencies from Member States and Associated Countries and from other third countries involved, as well as with relevant research projects supporting IRDiRC objectives.
SUPPORT-IRDiRC will reinforce international cooperation in research on rare diseases:
Cooperation between funding agencies
By ensuring a dialogue between funding agencies in the field of RD research, this proposal will contribute to optimizing the use of resources, which are scarce when considering the number of diseases to be covered. Reducing this fragmentation of resources will contribute to optimizing the route to more tests and more therapies.
Cooperation between and amongst research groups/clinicians
The current proposal will also support the dialogue between research groups to find ways to share data and make them available to the community at large, through the integration of the various national initiatives and the numerous clinical and mutation databases. The efforts will be targeted at identifying and promoting solutions to ease the linking of variation/mutation data to clinical information in order to be able to interpret information generated by sequencing approaches to diagnosis, and therefore to optimally serve the patients and reach the IRDiRC goals of a diagnostic test for most rare diseases by 2020.
More particularly, by organizing the cooperation between the selected HEALTH 2012.2.1.1-1-B and C projects, SUPPORT-IRDiRC will contribute to an optimal use of the tools and services (e.g computational standards and central databases) developed by the C project by the consortiums involved in each B project as an application field.
Cooperation between academia, industry and patient organizations
It is essential to strengthen the links between academia and industry, so that pre-competitive resources are established and maintained with both academic grants and industry sponsoring, and for industry to better capitalize on strong academic research results so as to translate these into new diagnostic tools and therapies. Patients have an important role to play in this process, as well as in all steps of research. The current project will support that approach, directly linked to the second goal of IRDiRC: “a treatment for 200 diseases” in 2020.
Establishment of standard policies and guidelines
SUPPORT-IRDiRC will contribute to the development of policies and guidelines aimed at accelerating research on RD and at reinforcing international research cooperation, especially in the field of clinical and biological databases, through support to the elaboration of common SOPs, of a harmonised ethical approach and of unified rules to access patient data and samples.
The project will also promote a better classification of rare diseases, the development of common ontologies for clinical description and the establishment of computational standards and central databases.
In fact, the techniques and tools for a major step forward in combining knowledge representation and software development are available but remain to be brought together in an industrial strength package. What is required is an engineering effort to bring existing methods together in novel ways.
SUPPORT-IRDiRC will assist IRDiRC members in setting up this new knowledge management environment. The benefit would be a major reduction in the effort to build, maintain, localize and evolve systems and improvement in the re-use, interoperability and standards of both knowledge resources and software.
Through its support activities SUPPORT-IRDiRC will contribute to the timely achievement of IRDiRC goals for the benefit of rare disease patients.
This coordination and support project has received funding from the European Union’s Seventh Framework Programme for research, technological development and demonstration under grant agreement n° 305207.
SUPPORT-IRDiRC periodic activity reports: