title: Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs.
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.
authors.affiliation: National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy. Electronic address: domenica.taruscio@iss.it.
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
authors.affiliation: National Center for Advancing Translational Sciences, National Institutes of Health, United States.
authors.forename: Stephen C
authors.initials: SC
authors.lastname: Groft
authors.affiliation: Wilhelm Foundation, Sweden.
authors.forename: Helene
authors.initials: H
authors.lastname: Cederroth
authors.affiliation: Department of Medical Genetics, University of Pécs, Hungary.
authors.forename: Béla
authors.initials: B
authors.lastname: Melegh
authors.affiliation: Department of Biology, McGill University, Montreal, Canada.
authors.forename: Paul
authors.initials: P
authors.lastname: Lasko
authors.affiliation: Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.affiliation: 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.
authors.forename: Gareth
authors.initials: G
authors.lastname: Baynam
authors.affiliation: Center for Biomedical Informatics, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States.
authors.forename: Alexa
authors.initials: A
authors.lastname: McCray
authors.affiliation: NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, United States.
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
mesh_terms: D014943:Global Health; D006078:Government Programs / Q000458:organization & administration*; D006801:Humans; D007391:International Cooperation; D009316:National Institutes of Health (U.S.); D040901:Proteomics / Q000191:economics / Q000295:instrumentation / Q000379:methods; D035583:Rare Diseases / Q000175:diagnosis* / Q000628:therapy; D014481:United States
keywords: Diagnosis; Global health; Omics; Ontology; Rare diseases; Undiagnosed