As recognized by the Council Recommendation 2009/C 151/02, rare diseases (RD) are a prime example of a research area that can strongly profit from coordination on a European and international scale. RD research should be improved to overcome fragmentation, leading to efficacious use of data and resources, faster scientific progress and competitiveness, and most importantly to decrease unnecessary hardship and prolonged suffering of RD patients. In the specific context of the massive generation, need for reuse and efficient interpretation of data, introduction of omics into care practice and the structuration of RD care centers in European Reference Networks, it appears crucial and timely to maximize the potential of already funded tools and programmes by supporting them further, scaling up, linking, and most importantly, adapting them to the needs of end-users through implementation tests in real settings. Such a concerted effort is necessary to develop a sustainable ecosystem allowing a virtuous circle between RD care, research and medical innovation. To achieve this goal, the European Joint Programme on RD (EJP RD) has two major objectives: (i) To improve the integration, the efficacy, the production and the social impact of research on RD through the development, demonstration and promotion of Europe/world-wide sharing of research and clinical data, materials, processes, knowledge and know-how; (ii) To implement and further develop an efficient model of financial support for all types of research on RD (fundamental, clinical, epidemiological, social, economic, health service) coupled with accelerated exploitation of research results for benefit of patients. To this end, the EJP RD actions will be organized within four major Pillars assisted by the central coordination: (P1): Funding of research; (P2): Coordinated access to data and services; (P3) Capacity building; (P4): Accelerated translation of research projects and improvement outcomes of clinical studies.

The European Rare Diseases Research Alliance (ERDERA) aims to improve the health and well-being of the 30 million people living with a rare disease in Europe, by making Europe a world leader in Rare Disease (RD) research and innovation, to support concrete health benefits to rare disease patients, through better prevention, diagnosis and treatment. This Partnership will deliver a RD ecosystem that builds on the successes of previous programmes by supporting robust patient need-led research, developing new diagnostic methods and pathways, spearheading the digital transformational change connecting the dots between care, patient data and research, while ensuring strong alignment of strategies in RD research across countries and regions. Structuring goal-oriented public-private collaborations targeted at interventions all along the R&D value chain will ensure that the journey from knowledge to patient impact is expedited, thereby optimising EU innovation potential in RD. To support its ambition and missions ERDERA has been designed as a comprehensive and integrated ecosystem of which structure can be compared to an institute encompassing three main parts: (i) funding, (ii) internal (in house) Clinical Research Network that implements research activities targeting clinical trial readiness of RDs and accelerating diagnosis and translation of research discovery into improved patient care, and (iii) related supporting services (Data, Expertise, Education and Training) as well as an acceleration hub that serve external and internal RD community, all supported by all-embracing coordination and strategy and foundational (inter)national alignment.

Acibadem Mehmet Ali Aydinlar University (ACU) is a thematic university in the field of health sciences in Turkey. GEMSTONE will advance ACU's scientific research and innovative capacity in strategic areas of gene engineering technologies and neuroscience with focus on the neurodevelopmental aspects of brain disorders, such as Parkinsons disease and epilepsy. GEMSTONE will strengthen collaboration with and capitalizing on knowledge transfer from one high-ranking foreign European academic institution (ULUND) and one non-profit organisation (ICONS). GEMSTONE will create opportunities for bilateral exchange of scientific knowledge and technical skills and training opportunities for researchers in hard and soft skills, supported by naturally convergent research interests. The project will result in increased scientific productivity, more active participation of ACU in national/international conferences and grants, and new networking and collaboration opportunities, which will increase the attractiveness, competitiveness and visibility of ACU within the global neuroscience community. A second pillar in the project will ensure that ACU researchers are adequately supported to express their potential. Staff of ACU Research Project Office and other research support services will be provided with the necessary knowledge and skills to guide researchers in submitting successful grant applications, attracting funds, communication research results and translating them to clinics and/or in commercial products. Lessons learned in the performance of research and in research management and administration will be collected in a best practice book and disseminated to other universities and governments in Widening countries. Ultimately, by increasing ACU researchers scientific profile and ACU research management, administration and communication capacities, the project will decrease the disparities among ACU and the top-class leading counterparts at the European level.