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 journalArticle

33 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
JournalMolecular Genetics and Metabolism
DOIs
Publication statusAccepted/In press - 2015

Fingerprint

National Institutes of Health (U.S.)
Health
Patient Participation
Hungary
Practice Guidelines
Italy
Canada
Biomedical Research
Websites
Japan
Delivery of Health Care
Physicians
Global Health

Keywords

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

ASJC Scopus subject areas

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

Cite this

Undiagnosed Diseases Network International (UDNI) : White paper for global actions to meet patient needs. / Taruscio, Domenica; Groft, Stephen C.; Cederroth, Helene; Melegh, Béla; Lasko, Paul; Kosaki, Kenjiro; Baynam, Gareth; McCray, Alexa; Gahl, William A.

In: Molecular Genetics and Metabolism, 2015.

Research output: Contribution to journalArticle

Taruscio, Domenica ; Groft, Stephen C. ; Cederroth, Helene ; Melegh, Béla ; Lasko, Paul ; Kosaki, Kenjiro ; Baynam, Gareth ; McCray, Alexa ; Gahl, William A. / Undiagnosed Diseases Network International (UDNI) : White paper for global actions to meet patient needs. In: Molecular Genetics and Metabolism. 2015.
@article{e8545ba18ce146a98103180a8bc45d85,
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.",
keywords = "Diagnosis, Global health, Omics, Ontology, Rare diseases, Undiagnosed",
author = "Domenica Taruscio and Groft, {Stephen C.} and Helene Cederroth and B{\'e}la Melegh and Paul Lasko and Kenjiro Kosaki and Gareth Baynam and Alexa McCray and Gahl, {William A.}",
year = "2015",
doi = "10.1016/j.ymgme.2015.11.003",
language = "English",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",

}

TY - JOUR

T1 - Undiagnosed Diseases Network International (UDNI)

T2 - White paper for global actions to meet patient needs

AU - Taruscio, Domenica

AU - Groft, Stephen C.

AU - Cederroth, Helene

AU - Melegh, Béla

AU - Lasko, Paul

AU - Kosaki, Kenjiro

AU - Baynam, Gareth

AU - McCray, Alexa

AU - Gahl, William A.

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

KW - Diagnosis

KW - Global health

KW - Omics

KW - Ontology

KW - Rare diseases

KW - Undiagnosed

UR - http://www.scopus.com/inward/record.url?scp=84948823359&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84948823359&partnerID=8YFLogxK

U2 - 10.1016/j.ymgme.2015.11.003

DO - 10.1016/j.ymgme.2015.11.003

M3 - Article

C2 - 26596705

AN - SCOPUS:84948823359

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

ER -