The Undiagnosed Diseases Network International: Five years and more!

D Taruscio; G Baynam; H Cederroth; S C Groft; E W Klee; K Kosaki; P Lasko; B Melegh; O Riess; M Salvatore; W A Gahl

doi:10.1016/j.ymgme.2020.01.004

The Undiagnosed Diseases Network International: Five years and more!

Mol Genet Metab. 2020 Apr;129(4):243-254. doi: 10.1016/j.ymgme.2020.01.004. Epub 2020 Jan 17.

Authors

D Taruscio¹, G Baynam², H Cederroth³, S C Groft⁴, E W Klee⁵, K Kosaki⁶, P Lasko⁷, B Melegh⁸, O Riess⁹, M Salvatore¹⁰, W A Gahl¹¹

Affiliations

¹ National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy. Electronic address: domenica.taruscio@iss.it.
² Western Australian Register of Developmental Anomalies and Genetic Services of WA, WA Health Department, Perth, Australia; Faculty of Health and Medical Sciences, Division of Paediatrics and Telethon Kids Institute, Perth, Australia.
³ Wilhelm Foundation, Brottby, Sweden.
⁴ National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
⁵ Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
⁶ Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
⁷ Department of Biology, McGill University, Montréal, Québec, Canada; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
⁸ Department of Medical Genetics, University of Pécs, School of Medicine, Clinical Center, Pecs, Hungary.
⁹ Institute of Medical Genetics and Applied Genomics, Rare Disease Center, University of Tübingen, Tübingen, Germany.
¹⁰ National Centre for Rare Diseases, Undiagnosed Rare Diseases Interdepartmental Unit, Istituto Superiore di Sanità, Rome, Italy.
¹¹ NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Institute, National Institutes of Health, Bethesda, MD, USA.

PMID: 32033911
DOI: 10.1016/j.ymgme.2020.01.004

Abstract

Undiagnosed rare diseases (URDs) account for a significant portion of the overall rare disease burden, depending upon the country. Hence, URDs represent an unmet medical need. A specific challenge posed by the ensemble of the URD patient cohort is the heterogeneity of its composition; the group, indeed, includes very rare, still unidentified conditions as well as clinical variants of recognized rare diseases. Exact disease recognition requires new approaches that cut across national and institutional boundaries, may need the implementation of methods new to diagnostics, and embrace clinical care and research. To address these issues, the Undiagnosed Diseases Network International (UDNI) was established in 2014, with the major aims of providing diagnoses to patients, implementing additional diagnostic tools, and fostering research on novel diseases, their mechanisms, and their pathways. The UDNI involves centres with internationally recognized expertise, and its scientific resources and know-how aim to fill the knowledge gaps that impede diagnosis, in particularly for ultra-rare diseases. Consequently, the UDNI fosters the translation of research into medical practice, aided by active patient involvement. The goals of the UDNI are to work collaboratively and at an international scale to: 1) provide diagnoses for individuals who have conditions that have eluded diagnosis by clinical experts; 2) gain insights into the etiology and pathogenesis of novel diseases; 3) contribute to standards of diagnosing unsolved patients; and 4) share the results of UDNI research in a timely manner and as broadly as possible.

Keywords: Diagnosis; Global health; Omics; Ontology; Rare diseases; Undiagnosed.

MeSH terms

Biomedical Research
Global Health*
Humans
Information Services / organization & administration*
International Cooperation*
Rare Diseases / diagnosis*
Rare Diseases / etiology
Time Factors
Undiagnosed Diseases*