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

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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.

Section snippets

Principles

Table 1 shows the general principles of the newly formed UDN International (UDNI).

  • 1.

    Patients enrolled in the UDNI should be selected for the unique characteristics of their disorder and for its potential to inform new aspects of cell biology, pathogenetic mechanism(s) and therapy. Candidate patients should have been extensively examined already, so that obvious diagnoses have been eliminated.

  • 2.

    Accepted patients should be thoroughly evaluated by the UDNI, preferably at no cost to the patient.

  • 3.

Practices

The UDNI will adhere to the following best practices.

  • 1.

    Applications will be specific to member sites, but should include core information described in Appendix A.

  • 2.

    Clinical site evaluations will be comprehensive and include clinical and basic research approaches, including specimen collection for future studies, as described in Appendix B.

  • 3.

    A list of clinical experts will be created for advice and referral both within the UDNI and outside of it.

  • 4.

    A list of basic research topic experts will be compiled

Implementation of principles and practices

Table 1 lists basic principles and their implementation in the NIH UDN. The UDNI is expected to operate under the same principles with similar approaches to implementation.

Governance

The UDNI will be organized as a consortium with membership and committees.

  • 1.

    Membership will be open to clinical investigators who serve undiagnosed disease patients from all countries.

  • 2.

    Members agree to adhere to the principles mentioned above.

  • 3.

    The initial Board of Directors will consist of Gareth Baynam (Australia), William Gahl (USA), Stephen Groft (USA), Kenjiro Kosaki (Japan), Paul Lasko (Canada), Bela Melegh (Hungary), and Domenica Taruscio (Italy). Half the board members are expected to be

Support

Funding for the UDNI database will be requested from the NIH Common Fund, which supports the NIH UDN. The UDNI website is provided by the Istituto Superiore di Sanità. Members of the UDNI will seek their own funding for their clinical/sequencing/research sites.

The UDNI principles, actions and governance are intended to address several priority health issues. Firstly, undiagnosed diseases are a global health problem, so undiagnosed diseases call for an international framework of scientific

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