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Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs
Journal article   Open access   Peer reviewed

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs

D. Taruscio, S.C. Groft, H. Cederroth, B. Melegh, P. Lasko, K. Kosaki, G. Baynam, A. McCray and W.A. Gahl
Molecular Genetics and Metabolism, Vol.116(4), pp.223-225
2015
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Abstract

In 2008, the National Institutes of Health's (NIH) Undiagnosed Disease Program (UDP) was initiated to provide diagnoses for individuals who had long sought one without success. As a result of two international conferences (Rome 2014 and Budapest 2015), the Undiagnosed Diseases Network International (UDNI) was established, modeled in part after the NIH UDP. Undiagnosed diseases are a global health issue, calling for an international scientific and healthcare effort. To meet this demand, the UDNI has built a consensus framework of principles, best practices and governance; the Board of Directors reflects its international character, as it includes experts from Australia, Canada, Hungary, Italy, Japan and the USA. The UDNI involves centers with internationally recognized expertise, and its scientific resources and know-how aim to fill the knowledge gaps that impede diagnosis. Consequently, the UDNI fosters the translation of research into medical practice. Active patient involvement is critical; the Patient Advisory Group is expected to play an increasing role in UDNI activities. All information for physicians and patients will be available at the UDNI website.

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UN Sustainable Development Goals (SDGs)

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#3 Good Health and Well-Being

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Collaboration types
Domestic collaboration
International collaboration
Citation topics
1 Clinical & Life Sciences
1.189 Genome Studies
1.189.597 Genetic Testing
Web Of Science research areas
Endocrinology & Metabolism
Genetics & Heredity
Medicine, Research & Experimental
ESI research areas
Molecular Biology & Genetics
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