Conference "Undiagnosed Rare Diseases: a joint Italy-USA Project"


Conference  took place in Rome on the 20th of November 2017 at Istituto Superiore di Sanità, Rome, Italy.  The aim of the Conference was to disseminate the results of the “Undiagnosed Rare Diseases: A joint Italy-Usa Project” project ( and offer a forum for discussion among all stakeholders on how to take advantage of this work in delivering better health decisions and health policies for undiagnosed and rare diseases. The project was funded by the Italian Minister for Foreign Affairs and International Cooperation within a bilateral agreement between Italy and USA. Its main aims are: i) to collect data of undiagnosed patients through the Italian Network of Rare Diseases (established by the Italian  DM 279/2001); ii) to promote the use of common standards for diagnosis and terminologies for diseases classification; iii) to develop and implement a national database and bioinformatics tools to facilitate data sharing at the International level; iv) to strengthen the collaboration between Italy and USA by sharing best practices, genomic and phenotypic data and expertise.

Beyond the presentation of the final results from the project itself, the conference brought together leading experts in the area of undiagnosed and rare diseases from Italy, Europe, and the USA as well as representatives from ERNs and patient associations in order to share common experiences, results and perspectives on this important field.

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