Innorare (Innovation and Research Acceleration for Rare Diseases) is the title of a grant application being submitted to the Horizon 2020 Infrastructure programme 2014. If funded it will become a new resource aiming to add value to clinical translational research in rare diseases (RD) by assembling and streamlining the tools and resources offered by existing research infrastructures in this area and where necessary improving their specificity to RD. The project would be coordinated by Professor Kate Bushby at Newcastle University. We are keen to reach out to the groups and organisations who might like to take part in this activity if the grant is funded as part of the Innorare User Group so please register your interest and we will be in touch once we know more.
What will be the added value?
- Better directed services and resources from existing research infrastructures (RIs) for RD research
- Better co-ordinated services across the RIs to tackle the translational pathway in RD, including innovative funding and partnering models and models to derisk the translational pipeline
- Models for quality assurance and sustainable support for resources generated by the RD community
- New funding opportunities for research and development through enhanced access to collaboration and infrastructural support
Specific pieces of work will be done around:
- Improving opportunities for the RD community to gain access to the tools for translational research available through the research infrastructures
- Enhancing the utility of data collected by RD groups
- Elaborating innovative funding models and tools to derisk translational research
- Improving the utility of biobanks and registries for translational research
- Creating an RD specific trial culture and support system
- Providing cloud based access to RD data and tools for their evaluation
- Addressing specific pathways for RD drug development
- Developing workflows and innovative bioinformatics tools for RD data
These benefits should be tangible for:
- RD patient groups, including those with initiatives such as registries and biobanks
- Academic groups working on RD research
- Industry with an interest in RD diagnostics or therapy development
- Care providers who are interested in delivery of diagnostics and therapies for RD
- And most importantly RD patients themselves
What does the grant call for?
A requirement of the EU in the grant call for integrating activities is to bring together a specific community (here the RD community) with the resources offered by the so-called “Research Infrastructures” (RIs). Key partners in the grant are therefore the infrastructures of particular relevance to RD including Elixir (which works on data), BBMRI (biobanking resources), INFRAFRONTIER (animal model assessment), EU-OPENSCREEN (drug screening platforms), EATRIS (partnering for translational research) and ECRIN (multinational clinical trials). The further emphasis is that the integration of the RD field and the RIs would allow the data and information on RD patients to be better utilised for diagnosis, epidemiology, prevention and treatment of disease- that is the translation of research findings for patient benefit. Partners in the grant therefore also include Eurordis and institutions involved in RD translational research. All of the various RD stakeholders including patients, patient organisations, service providers, researchers and industry are invited to participate as part of the Innorare User Community.
What is the current situation?
We know from scoping work that, with some exceptions, the RIs currently are only patchily used by researchers in the RD field and also that in some areas the services they provide need to be developed further to be responsive to the specific needs of the RD research community. There are many excellent projects and networks in the RD world which potentially could benefit from access to the services of the RI and their sustainable platforms, but often these groups are working in isolation and with no sustainability. An additional context is that we are at an exciting stage politically for RD with a new European Commission Expert Group on Rare Diseases in place, calls for European Reference Networks anticipated in 2015 and the institution of a registries platform at the Joint Research Centre (JRC).
What needs to be done to link the RI and RD resources?
One aim of Innorare is to provide a framework for the RIs to work together so that they can really cover the whole translational pathway of research to patient benefit for RD in a seamless way and can be accessed easily. Another aim is to ensure that the way that the RIs work is adapted to the specifics of RD research where this is not already happening, such as in the areas of data interoperability and ontologies. There are areas of innovation in funding streams for RD research which we can develop as part of the Innorare toolkit. We want to establish a sustainable resource for safe sharing of data and continue to work on linking biobanks and registries within sustainable solutions, working also with JRC. Clinical trial initiation in RD can be arduous and this will be addressed with ECRIN.
How will Innorare bring people together?
Innorare is already a multistakeholder project with representation from the RIs, academic institutions and patient representatives. In addition, Innorare will work with a wide reaching and multistakeholder user community, who, as the planned users of the resources, will be consulted closely on Innorare activities, participate in service developments and provide use cases to the development of the tools and resources. We hope this group will include representatives of a wide range of RD projects and networks, linked initiatives such as specific patient organisation initiatives, the Global Alliance for Genomics and Health and IRDiRC and industry representatives.
What is the long term perspective?
We are hoping that this grant will give us three years’ funding to establish the Innorare specific resources and the Innorare pipeline. Addressing sustainability through possible long term integration into the RI offer, and other funding routes including the possibilities arising from public private partnerships will be a specific task of the project.