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Mol Genet Metab. 2015 Dec;116(4):223-5. doi: 10.1016/j.ymgme.2015.11.003. Epub 2015 Nov 5.

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

Author information

1
National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy. Electronic address: domenica.taruscio@iss.it.
2
National Center for Advancing Translational Sciences, National Institutes of Health, United States.
3
Wilhelm Foundation, Sweden.
4
Department of Medical Genetics, University of Pécs, Hungary.
5
Department of Biology, McGill University, Montreal, Canada.
6
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
7
Princess Margaret and King Edward Memorial Hospitals, Perth, Australia; Office of Population Health, Public Health Division, WA Department of Health, Australia; Telethon Kids Institute, Perth, Australia; Western Australian Registry of Developmental Anomalies, Perth, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, Australia; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Australia.
8
Center for Biomedical Informatics, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States.
9
NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, United States.

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.

KEYWORDS:

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

PMID:
26596705
DOI:
10.1016/j.ymgme.2015.11.003
[Indexed for MEDLINE]

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