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

Research output: Contribution to journalComment/debate

34 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)223-225
Number of pages3
JournalMolecular Genetics and Metabolism
Volume116
Issue number4
DOIs
Publication statusPublished - 2015

Keywords

  • Diagnosis
  • Global health
  • Omics
  • Ontology
  • Rare diseases
  • Undiagnosed

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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  • Cite this

    Taruscio, D., Groft, S. C., Cederroth, H., Melegh, B., Lasko, P., Kosaki, K., Baynam, G., McCray, A., & Gahl, W. A. (2015). Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. Molecular Genetics and Metabolism, 116(4), 223-225. https://doi.org/10.1016/j.ymgme.2015.11.003