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

Domenica Taruscio, Stephen C. Groft, Helene Cederroth, Béla Melegh, Paul Lasko, Kenjiro Kosaki, Gareth Baynam, Alexa McCray, William A. Gahl

研究成果: Comment/debate査読

41 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)223-225
ページ数3
ジャーナルMolecular Genetics and Metabolism
116
4
DOI
出版ステータスPublished - 2015

ASJC Scopus subject areas

  • 内分泌学、糖尿病および代謝内科学
  • 生化学
  • 分子生物学
  • 遺伝学
  • 内分泌学

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