TY - JOUR
T1 - Undiagnosed Diseases Network International (UDNI)
T2 - White paper for global actions to meet patient needs
AU - Taruscio, Domenica
AU - Groft, Stephen C.
AU - Cederroth, Helene
AU - Melegh, Béla
AU - Lasko, Paul
AU - Kosaki, Kenjiro
AU - Baynam, Gareth
AU - McCray, Alexa
AU - Gahl, William A.
N1 - Funding Information:
Many undiagnosed patients, including patients affected by rare diseases, with unmet needs are present throughout the world. To begin to address this, the Common Fund, within the Office of the NIH Director, along with the Wilhelm Foundation, Sweden [4] , has sponsored two international conferences. The first was held in Rome on September 29–30, 2014 (hosted by the National Center for Rare Diseases, Istituto Superiore di Sanità) and the second was in Budapest on June 26–27, 2015 (hosted by the National Research, Development and Innovation Office [NKFIH] and the University of Pecs, Hungary). A related workshop was held in Perth, Western Australia (August 2015). In attendance were representatives of 18 countries and 4 continents, and a firm resolve to improve the situation emanated from those meetings.
Publisher Copyright:
© 2015 .
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
KW - Diagnosis
KW - Global health
KW - Omics
KW - Ontology
KW - Rare diseases
KW - Undiagnosed
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U2 - 10.1016/j.ymgme.2015.11.003
DO - 10.1016/j.ymgme.2015.11.003
M3 - Comment/debate
C2 - 26596705
AN - SCOPUS:84948823359
SN - 1096-7192
VL - 116
SP - 223
EP - 225
JO - Biochemical Medicine and Metabolic Biology
JF - Biochemical Medicine and Metabolic Biology
IS - 4
ER -
