The NIH Undiagnosed Diseases Network (UDN) is a research study to improve the level of diagnosis of rare and undiagnosed conditions. In the United States, it has been estimated that approximately 25 million Americans suffer from a rare disorder. The UDN established a nationwide network of clinicians and researchers who use both basic and clinical research to uncover the underlying disease mechanisms associated with these conditions. Since its launch, the UDN has provided over 600 diagnoses and that number continues to grow. The network has discovered hundreds of novel disease-associated genes and genomic variants, including new diseases and syndromes; and built an international reputation for establishing exemplary clinical practices, standards, and pipelines for genomics-based diagnoses.
- Twelve Clinical Sites (including the NIH UDP)
- Coordinating Center
- Sequencing Core
- Two Model Organisms Screening Centers
- Metabolomics Core
- Central Biorepository
The goal of the Common Fund Program was to form a sustainable national resource to diagnose both rare and new diseases, advance laboratory and clinical research, enhance global coordination and collaboration among laboratory and clinical researchers, and share resulting data and approaches throughout the scientific and clinical communities.
Who is in the Network?
The UDN is a group of clinical and research centers across the United States. More information about the centers that make up the UDN can be found here.
Future plans to support the Undiagnosed Diseases Network
Common Fund programs are established with defined goals and a ten year limit to achieve them. The Common Fund goal for the UDN was to establish and test a new model of collaboration across clinical sites to extend the NIH intramural Undiagnosed Diseases Program to extramural centers.
In FY2022, NIH provided supplements and extensions to the existing UDN extramural clinical sites, Coordinating Center, and some Cores to ensure that all participants accepted by the end of the ninth year are evaluated as the program transitions to a larger, self-sustained network. The UDN will transition from Common Fund support in July 2023. The National Institute of Neurological Disorders and Stroke (NINDS) will assume a leadership role in managing the Network with help from 14 different NIH Institutes and Centers along with the NIH Office of the Director. The intramural Undiagnosed Disease Program, housed within the NIH Clinical Center and currently supported as a UDN clinical site, will continue to receive support and oversight from multiple NIH Institutes and Centers.
In FY2023, NIH awarded an additional year of funding to existing UDN clinical sites through a limited competition to continue their participation in the UDN, enroll and evaluate new participants, further develop their sustainability plans, and establish collaborations and efficient processes with the next phase Data Management and Coordinating Center (DMCC). NIH awarded the new DMCC, which will provide infrastructure and research support for a new network of clinical sites. To expand geographic coverage and reach underserved and underinsured populations in the next phase, the NIH published a NOFO to allow new clinical sites with the appropriate infrastructure, expertise, and resources needed to conduct the clinical evaluation and DNA sequencing of participants to apply for designation as a Diagnostic Center of Excellence and have access to resources of the DMCC. Support for UDN components via NIH Institutes and Centers ensures a trans-NIH approach to supporting UDN activities beyond the 10 year lifespan of a Common Fund program.
For additional information about the next phase of the UDN, please visit the program’s page on NINDS’ website. To learn more about applying to be a UDN participant, please contact the UDN Coordinating Center.