Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs.
| Title: | Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs. |
|---|---|
| Authors: | Taruscio D; National Center for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy. Electronic address: domenica.taruscio@iss.it.; Groft SC; National Center for Advancing Translational Sciences, National Institutes of Health, United States.; Cederroth H; Wilhelm Foundation, Sweden.; Melegh B; Department of Medical Genetics, University of Pécs, Hungary.; Lasko P; Department of Biology, McGill University, Montreal, Canada.; Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.; Baynam G; 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.; McCray A; Center for Biomedical Informatics, Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States.; Gahl WA; NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, United States. |
| Source: | Molecular genetics and metabolism [Mol Genet Metab] 2015 Dec; Vol. 116 (4), pp. 223-5. Date of Electronic Publication: 2015 Nov 05. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Consensus Statement |
| Language: | English |
| Journal Info: | Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Orlando, FL : Academic Press, c1998- |
| MeSH Terms: | Global Health*; Government Programs/*organization & administration ; Rare Diseases/*diagnosis; Proteomics/economics ; Proteomics/instrumentation ; Proteomics/methods ; Rare Diseases/therapy ; Humans ; International Cooperation ; National Institutes of Health (U.S.) ; 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.; (Copyright © 2015. Published by Elsevier Inc.) |
| Contributed Indexing: | Keywords: Diagnosis; Global health; Omics; Ontology; Rare diseases; Undiagnosed |
| Entry Date(s): | Date Created: 20151125 Date Completed: 20160926 Latest Revision: 20260127 |
| Update Code: | 20260130 |
| DOI: | 10.1016/j.ymgme.2015.11.003 |
| PMID: | 26596705 |
| Database: | MEDLINE |
Journal Article; Research Support, N.I.H., Extramural; Consensus Statement