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A European Platform of Integrated Information Services for Researchers in the Field of Rare Diseases and Orphan Drugs Supporting Team and Project Building

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A united front to tackle rare diseases

A collaboration among 13 European countries resulted in the generation of a project-building platform to help researchers in the field of rare diseases. The consortium set up efficient, multidisciplinary teams to tackle research challenges.

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Diseases that affect one in 2 000 people are considered to be 'rare'. They are often life-threatening or chronically debilitating disorders and most of them have a genetic origin. The very small number of patients affected by a specific rare disease results in fragmentation of research efforts and in limited potential for commercial development of medicinal products. However, patients with rare diseases are entitled to the same level and quality of healthcare. For this reason, cooperation among research groups working on rare diseases with clinical teams and biotech companies is urgently required in order to convert scientific developments in the field into diagnostic tools and therapies. The EU-funded Rarediseaseplatform project aimed at creating a set of tools intended to facilitate collaborations among academic teams, small and medium-sized enterprises (SMEs) and even major companies in the field of rare diseases. These tools will help to speed up research and development by supporting the cooperation of experts, researchers and companies. The ultimate goal is to generate and share diagnostic tools and medical products. Partners constructed a publicly available website ( highlighting the scope and activities of the project. Any information on expert groups in Europe, ongoing funded research projects, technological platforms, databases and biobanks relevant to rare diseases research was released on the existing Orphanet website. A new multiple-criteria search engine was set up to facilitate accessibility to information regarding rare diseases research and availability of orphan drugs. Additionally, a new Orphanet report series was published to present the rare disease networks in Europe alongside reports on patient registries and databases in Europe. The information collected during the project was disseminated in two workshops, providing a clear picture on the current status of research and funding in the field of rare diseases. The work of the consortium culminated in a final report on the state of the art of research and development in Europe in the field of rare diseases and orphan drugs. The activities of the Rarediseaseplatform project worked to bring closer all stakeholders in the field of rare diseases in order to integrate related research. The established Orphanet website is a valuable step towards achieving that goal.

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