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| Undiagnosed Diseases Network International (UDNI) is an International Network that helps “provide diagnoses for individuals who had long sought one without success…The UDNI involves centers with internationally recognized expertise, and its scientific resources and know-howaimto fill the knowledge gaps that impede diagnosis.” (article)
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| “ RD-Connect is an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. To help researchers study rare diseases, RD–Connect links different data types – omics (e.g. genomics), clinical information, patient registries and biobanks – into a common resource”.
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| SOLVE-RD is a European Project funded by H2020 (i) to solve large numbers of RD, for which a molecular cause is not known yet, by sophisticated combined Omics approaches, and (ii) to improve diagnostics of RD patients through a “genetic knowledge web. |
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| Wilhem Foundation promotes Research in Rare diseases and the dissemination and communication between researchers and affected families. It is mostly focused on children affected by undiagnosed neurologic diseases.
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| The main objective of the Blackswan Foundation is to promote the research in rare diseases.
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| The Japanese Program ‘Initiative on Rare and Undiagnosed Diseases (IRUD)’ : Integrating Knowledge for Diagnosis is led and coordinated by the Japan Agency for Medical Research and Development (AMED). It was launched in 2015.
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