Global initiative for the undiagnosed diseases network

Hwang Joo-Yeon, Ahn Younjhin*
Division of Rare Diseases, Center for Biomedical Sciences, KNIH, KCDC

Undiagnosed diseases (“diagnostic odyssey”) are a global public health issue with long-term medical consequences. In 2008, the National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) was established to provide diagnostic criteria for previously unrecognized diseases as well as to obtain insights into novel disease mechanisms and pathways. The UDP project could be important for patients, academic medical centers, the scientific community, and society. In 2015, a nationwide Undiagnosed Diseases Network (UDN) was launched. However, the unmet needs of this network remain a significant problem. Given the broad spectrum of unknown or ultra-rare disorders, international collaborations and networks are important to integrate clinical research resources across ethnic populations for a more comprehensive understanding of diagnoses and treatments. To address this issue further, the Undiagnosed Diseases Network International (UDNI) was initiated to build consensus framework of principles, best practices, and governance. Recently, the Korea NIH has made an effort to uncover and identify undiagnosed diseases through a pilot project by developing systematic input system as a gateway. It is high time we pay more attention to the UDNI to accelerate diagnosis, improve recommendations for clinical management, and advance research. We expect to improve diagnostic accuracy through international network participation and data sharing.

Keywords: Undiagnosed disease, Clinical-genomic, Undiagnosed diseases program, Undiagnosed diseases network, Undiagnosed diseases network international