UDNI: an international effort to address rare and undiagnosed diseases

The International Network for Undiagnosed Diseases (UDNI) was established in 2014 across several countries to improve the rate of definite diagnosis for persons living with undiagnosed conditions. Inspired by the Undiagnosed Diseases Program of the US National Institutes of Health (NIH), the UDNI has built a consensus framework of principles, governance and best practices. The Board of Directors includes experts from Australia, Sweden, Canada, Hungary, Italy, Japan and USA; 18 additional countries from 4 continents are currently represented in the network. The UDNI involves clinical and research centers with internationally recognized expertise on rare diseases, whose scientific value and knowhow aim to fill gaps of knowledge and speed up processes leading to a final diagnosis, fostering the translation of basic and clinical research into medical practice and care of patients. Active involvement of supportive organizations is also central; the Patient Advisory Group is playing an increasing role in UDNI activities.

“Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs” is the official document published by the Steering Committee of the UDNI in 2015 to highlight principles and practices, policies and planned solutions on the complex issues of undiagnosed conditions. http://dx.doi.org/10.1016/j.ymgme.2015.11.003.

More information on UDNI research studies and activities is available at the website www.UDNInternational.org.

Members of the UDNI meet regularly to discuss undiagnosed cases, strategies and results. The following International Conferences have been organized since 2014:

1st International Conference on Rare and Undiagnosed Diseases, 29-30 September 2014, Rome

2nd International Conference on Rare and Undiagnosed Diseases, 26-27 June 2015, Budapest

3rd UDNI International Conference, 18 February 2016, Wien

4th Conference of Undiagnosed Diseases Network International, 16-17 November 2016, Tokyo, Japan

5th Conference of Undiagnosed Diseases Network International, 28-29 August 2017, Stockholm, Sweden

Members of the UDNI are drawn from the international community of researchers and stakeholders involved in undiagnosed diseases. Categories of membership are: Clinical, Non-Clinical, Institutional and Patient Engagement.