the aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. projects shall involve a group of rare diseases or a single rare disease following the european definition i.e. a disease affecting not more than five in 10,000 persons in the european community, ec associated states and canada.
transnational research proposals must cover at least one of the following areas, which are equal in relevance for this call:
- collaborative research using patient databases and corresponding collections of biological material that would generally not be possible at a national scale. this research must have clear potential for clinical application and well defined scientific objectives, e.g.:
- definition of new nosological entities, epidemiological studies, genotype/phenotype correlations, natural history of diseases;
- characterisation of the genetic/molecular basis of specific diseases
- research on rare diseases including genetic, epigenetic, and pathophysiological studies, using innovative and shared resources, technologies (omics, new generation sequencing, etc.) and expertise.
- research on development of applications for diagnosis and therapies for rare diseases. this may include identification and characterisation of (bio)-markers for diagnosis and prognosis, development of innovative screening systems and diagnostic tools, the generation of relevant cellular and/or animal models, and preclinical studies using pharmacological, gene or cell therapies.
project proposals must clearly demonstrate the potential health impact as well as the added-value of transnational collaboration: gathering a critical mass of patients/biological material, sharing of resources (models, databases, diagnosis etc.), harmonisation of data, sharing of specific know-how and/or innovative technologies, etc.
each transnational collaborative project should represent the critical mass to achieve ambitious scientific goals and should clearly demonstrate an added value from working together. applicants are encouraged to demonstrate engagement with industry for its active participation including areas of collaboration, sharing of resources, capabilities and expertise, in order to ensure an efficient transfer of pre-clinical results into clinical utility. likewise, patient organizations are invited to participate where appropriate as their engagement has the potential to provide new insights that could lead to innovative discoveries, and ensures that research is relevant to patients' concerns.
it is expected that the inclusion of partner groups from participating eastern european countries will contribute to strengthening the research capacity building in europe as a whole.
the aim of the call is in compliance with the goals set by irdirc which fosters international collaboration in rare diseases research. for more information see irdirc website.
the following diseases/topics are excluded from the scope of the call:
- interventional clinical trials;
- rare infectious diseases, rare cancers and rare adverse drug events in treatments of common diseases; and
- rare neurodegenerative diseases which are within the focus of the joint programming initiative on neurodegenerative disease research (jpnd). these concern: alzheimer's disease (ad) and other dementias; parkinson's disease (pd) and pd-related disorders; prion disease; motor neuron diseases (mnd); huntington's disease (hd); spinal muscular atrophy (sma) and dominant forms of spinocerebellar ataxia (sca).