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