There are at least 7000 distinct rare diseases, the great majority being of genetic origin. Although individually rare, taken together rare diseases affect at least 26-30 million people in Europe. Moreover, they represent a major issue in health care: a large number of these diseases have an early or very early onset and/or lead to a significant decrease of life expectancy. Moreover, most of them cause chronic illnesses with a large impact on quality of life and the health care system.
The specificities of rare diseases - limited number of patients per disease, scarcity of relevant knowledge and expertise, and fragmentation of research - single them out as a distinctive domain of very high European added-value. Rare diseases are therefore a prime example of a research area that necessitates collaboration/coordination on a transnational scale.
In this context, the ERA-Net E-Rare has successfully implemented ten Joint Transnational Calls for rare disease research projects since 2006. This effort is now continued in the frame of the European Joint Programme on Rare Diseases (EJP RD) that has been established to further help in coordinating the research efforts of European, Associated and non-European countries in the field of rare diseases and implement the objectives of the International Rare Disease Research Consortium (IRDiRC).
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 benefit for patients.
Topic: Research projects to accelerate diagnosis and/or explore disease progression and mechanisms of rare diseases.
Transnational research proposals must cover at least one of the following areas, which are equal in relevance for this call:
a. Research to accelerate diagnosis, e.g.:
b. Research to explore disease progression and mechanisms, e.g.:
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.
The research projects submitted within this call must be based on novel ideas stemming from consolidated previous results or preliminary data and must be clearly endowed with benefit for the patients, i.e. studies allowing a rapid implementation into public health-related decisions or into the clinics.
Joint research proposals may be submitted by partners belonging to one of the following categories (according to country/regional regulations):
There will be a two-stage submission procedure for joint applications: pre-proposals and then full proposals. In both cases, one joint proposal document (in English) shall be prepared by the partners of a joint transnational proposal, and must be submitted to the JCS by uploading it on the electronic submission system by the coordinator.
Joint pre-proposals (in English) must be received by the JCS in an electronic version no later than February 15, 2019 at 05 p.m. Central European Time (CET).